Query Trace: Genetic counseling[orginal query]
Validating a breast cancer score in Spanish women. The MCC-Spain study.  Scientific reports 2018 Feb 8 (1): 3036. Dierssen-Sotos Trinidad, Gómez-Acebo Inés, Palazuelos Camilo, Fernández-Navarro Pablo, Altzibar Jone M, González-Donquiles Carmen, Ardanaz Eva, Bustamante Mariona, Alonso-Molero Jessica, Vidal Carmen, Bayo-Calero Juan, Tardón Adonina, Salas Dolores, Marcos-Gragera Rafael, Moreno Víctor, Rodriguez-Cundin Paz, Vinyals Gemma Castaño, Ederra María, Vilorio-Marqués Laura, Amiano Pilar, Pérez-Gómez Beatriz, Aragonés Nuria, Kogevinas Manolis, Pollán Marina, Llorca Javi |
| Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. Oncotarget 2017 Dec 8 (68): 112258-112267. Hirasawa Akira, Imoto Issei, Naruto Takuya, Akahane Tomoko, Yamagami Wataru, Nomura Hiroyuki, Masuda Kiyoshi, Susumu Nobuyuki, Tsuda Hitoshi, Aoki Daisu |
| Association of genetic variants of hemostatic genes with myocardial infarction in Egyptian patients. Gene 2017 Oct . El-Fatah Amal Ahmed Abd, Sadik Nermin Abdel Hamid, Sedrak Heba, Battah Ahmed, Nabil M |
| F508del CFTR gene mutation in patients with allergic bronchopulmonary aspergillosis. The Journal of asthma : official journal of the Association for the Care of Asthma 2017 Oct 1-7. Gamaletsou Maria N, Hayes Gemma, Harris Chris, Brock Joanna, Muldoon Eavan G, Denning David |
| Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling. Biochemical genetics 2017 Oct . Shaikh Hina, Waryah Ali M, Narsani Ashok K, Iqbal Muhammad, Shahzad Mohsin, Waryah Yar M, Shaikh Naila, Mahmood Amb |
| Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Comprehensive genetic analysis by next-generation sequencing of 480 patients. Haematologica 2017 Sep . Borràs Nina, Batlle Javier, Pérez-Rodríguez Almudena, López-Fernández María Fernanda, Rodríguez-Trillo Ángela, Lourés Esther, Cid Ana Rosa, Bonanad Santiago, Cabrera Noelia, Moret Andrés, Parra Rafael, Mingot-Castellano María Eva, Balda Ignacia, Altisent Carme, Pérez-Montes Rocío, Fisac Rosa María, Iruín Gemma, Herrero Sonia, Soto Inmaculada, de Rueda Beatriz, Jimimenez-Yuste Victor, Alonso Nieves, Vilariño Dolores, Arija Olga, Campos Rosa, Paloma María José, Bermejo Nuria, Berrueco Rubén, Mateo José, Arribalzaga Karmele, Marco Pascual, Palomo Ángeles, Sarmiento Lizheidy, Iñigo Belén, Nieto María Del Mar, Vidal Rosa, Martínez María Paz, Aguinaco Reyes, César Jesús María, Ferreiro María, García-Frade Javier, Rodríguez-Huerta Ana María, Cuesta Jorge, Rodríguez-González Ramón, García-Candel Faustino, Cornudella Rosa, Aguilar Carlos, Vidal Francisco, Corrales Ire |
| Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer. Breast cancer research and treatment 2017 Aug . Zhang Kun, Zhou Jiaojiao, Zhu Xuan, Luo Meng, Xu Chunjing, Yu JieKai, Deng Mei, Zheng Shu, Chen Yidi |
| Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan. Familial cancer 2017 Aug . Yousef Yacoub A, Tbakhi Abdelghani, Al-Hussaini Maysa, AlNawaiseh Ibrahim, Saab Ala, Afifi Amal, Naji Maysa, Mohammad Mona, Deebajah Rasha, Jaradat Imad, Sultan Iyad, Mehyar Musta |
| Association between an indel polymorphism in the 3'UTR of COL1A2 and the risk of sudden cardiac death in Chinese populations. Legal medicine (Tokyo, Japan) 2017 Jul 28 22-26. Yin Zhixia, Guo Yadong, Zhang Jianhua, Zhang Qing, Li Lijuan, Wang Shouyu, Wang Chaoqun, He Yan, Zhu Shaohua, Li Chengtao, Zhang Suhua, Zha Lagabaiyila, Cai Jifeng, Luo Bin, Gao Yuzh |
| Mutation analysis of common GJB2, SCL26A4 and 12S rRNA genes among 380 deafness patients in northern China. International journal of pediatric otorhinolaryngology 2017 Jul 98 39-42. Pan Jing, Xu Ping, Tang Weibo, Cui Zhongtao, Feng Miao, Wang Chunyi |
| Prevalence and Spectrum of NKX2-5 Mutations Associated With Sporadic Adult-Onset Dilated Cardiomyopathy. International heart journal 2017 Jul . Xu Jia-Hong, Gu Jian-Yun, Guo Yu-Han, Zhang Hong, Qiu Xing-Biao, Li Ruo-Gu, Shi Hong-Yu, Liu Hua, Yang Xiao-Xiao, Xu Ying-Jia, Qu Xin-Kai, Yang Yi-Qi |
| When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul . Maya Idit, Sharony Reuven, Yacobson Shiri, Kahana Sarit, Yeshaya Josepha, Tenne Tamar, Agmon-Fishman Ifaat, Cohen-Vig Lital, Goldberg Yael, Berger Racheli, Basel-Salmon Lina, Shohat Mordech |
| Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records. Journal of genetic counseling 2017 Jun . Adamsheck Hallee C, Petty Elizabeth M, Hong Jinkuk, Baker Mei W, Brilliant Murray H, Mailick Marsha |
| Young Israeli women with epithelial ovarian cancer: prevalence of BRCA mutations and clinical correlates. Journal of gynecologic oncology 2017 Jun . Helpman Limor, Zidan Omri, Friedman Eitan, Kalfon Sarit, Perri Tamar, Ben-Baruch Gilad, Korach Jac |
| Can genetic-based advice help you lose weight? Findings from the Food4Me European randomized controlled trial. The American journal of clinical nutrition 2017 Apr . Celis-Morales Carlos, Marsaux Cyril Fm, Livingstone Katherine M, Navas-Carretero Santiago, San-Cristobal Rodrigo, Fallaize Rosalind, Macready Anna L, O'Donovan Clare, Woolhead Clara, Forster Hannah, Kolossa Silvia, Daniel Hannelore, Moschonis George, Mavrogianni Christina, Manios Yannis, Surwillo Agnieszka, Traczyk Iwona, Drevon Christian A, Grimaldi Keith, Bouwman Jildau, Gibney Mike J, Walsh Marianne C, Gibney Eileen R, Brennan Lorraine, Lovegrove Julie A, Martinez J Alfredo, Saris Wim Hm, Mathers John |
| Sickle Cell Trait and the Risk of ESRD in Blacks. Journal of the American Society of Nephrology : JASN 2017 Mar . Naik Rakhi P, Irvin Marguerite R, Judd Suzanne, Gutiérrez Orlando M, Zakai Neil A, Derebail Vimal K, Peralta Carmen, Lewis Michael R, Zhi Degui, Arnett Donna, McClellan William, Wilson James G, Reiner Alexander P, Kopp Jeffrey B, Winkler Cheryl A, Cushman Ma |
| An insertion/deletion polymorphism within 3'UTR of RYR2 modulates sudden unexplained death risk in Chinese populations. Forensic science international 2017 Jan 270 165-172. Wang Shouyu, Zhang Zhixiang, Yang Ya, Wang Chaoqun, Tao Ruiyang, Hu Shuxiang, Yin Zhixia, Zhang Qing, Li Lijuan, He Yan, Zhu Shaohua, Li Chengtao, Zhang Suhua, Zhang Jianhua, Sheng Lihui, Wu Fangyu, Luo Bin, Gao Yuzh |
| Rare germline alterations in cancer-related genes associated with the risk of multiple primary tumor development. Journal of molecular medicine (Berlin, Germany) 2017 Jan . Villacis Rolando A R, Basso Tatiane R, Canto Luisa M, Pinheiro Maísa, Santiago Karina M, Giacomazzi Juliana, de Paula Cláudia A A, Carraro Dirce M, Ashton-Prolla Patrícia, Achatz Maria I, Rogatto Silvia |
| The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort. Clinica chimica acta; international journal of clinical chemistry 2017 Jan 464 189-194. Khajuria Ragini, Walia Rama, Bhansali Anil, Prasad Rajend |
| Rs12941170 at SOX9 gene associated with orofacial clefts in Chinese. Archives of oral biology 2016 Dec 76 14-19. Jia Zhong-Lin, He Sha, Jiang Shu-Yuan, Zhang Bi-He, Duan Shi-Jun, Shi Jia-Yu, Huang Ning, Zhu Wen-Chao, Shi Bi |
| In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample. Cancer genetics 2016 Nov 209 (11): 487-492. Rodríguez-Balada Marta, Roig Bàrbara, Martorell Lourdes, Melé Mireia, Salvat Mònica, Vilella Elisabet, Borràs Joan, Gumà Jos |
| Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer. Archives of gynecology and obstetrics 2016 Nov 294 (6): 1299-1303. Kast Karin, Dobberschütz Catharina, Sadowski Carolin Eva, Pistorius Steffen, Wimberger Pauli |
| Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia. BMC medical genetics 2016 Oct 17 (Suppl 1): 69. Turki Rola F, Assidi Mourad, Banni Huda A, Zahed Hanan A, Karim Sajjad, Schulten Hans-Juergen, Abu-Elmagd Muhammad, Rouzi Abdulrahim A, Bajouh Osama, Jamal Hassan S, Al-Qahtani Mohammed H, Abuzenadah Adel |
| Evaluation of a Population Based Approach to Familial Colorectal Cancer. Clinical genetics 2016 Oct . Parfrey P S, Dicks E, Parfrey O, McNicholas P J, Noseworthy H, Woods M O, Negriin C, Green |
| Genetic Screening of Pediatric Cavernous Malformations. Journal of molecular neuroscience : MN 2016 Oct 60 (2): 232-8. Merello Elisa, Pavanello Marco, Consales Alessandro, Mascelli Samantha, Raso Alessandro, Accogli Andrea, Cama Armando, Valeria Capra, De Marco Patriz |
| Molecular Understanding of Non-Transfusion-Dependent Thalassemia Associated with Hemoglobin E-?-Thalassemia in Northeast Thailand. Acta haematologica 2016 Oct 136 (4): 233-239. Yamsri Supawadee, Pakdee Naruwat, Fucharoen Goonnapa, Sanchaisuriya Kanokwan, Fucharoen Sup |
| Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability. Journal of thrombosis and haemostasis : JTH 2016 Oct 14 (10): 1988-1993. Jourdy Y, Chatron N, Carage M-L, Fretigny M, Meunier S, Zawadzki C, Gay V, Negrier C, Sanlaville D, Vinciguerra |
| Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan. Cancer science 2016 Sep . Sugano Kokichi, Nakajima Takeshi, Sekine Shigeki, Taniguchi Hirokazu, Saito Shinya, Takahashi Masahiro, Ushiama Mineko, Sakamoto Hiromi, Yoshida Teruhi |
| Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. Oncology reports 2016 Sep . Lagerstedt-Robinson Kristina, Rohlin Anna, Aravidis Christos, Melin Beatrice, Nordling Margareta, Stenmark-Askmalm Marie, Lindblom Annika, Nilbert M |
| Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. Journal of pediatric gastroenterology and nutrition 2016 Sep . Amato Felice, Cardillo Giuseppe, Liguori Renato, Scorza Manuela, Comegna Marika, Elce Ausilia, Giordano Sonia, Lucaccioni Laura, Lugli Licia, Cardile Sabrina, Romano Claudio, Pezzella Vincenza, Castaldo Giuseppe, Canani Roberto Ber |
| Hereditary breast and ovarian cancer: new genes in confined pathways. Nature reviews. Cancer 2016 Aug . Nielsen Finn Cilius, van Overeem Hansen Thomas, Sørensen Claus Storgaa |
| Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. Clinical biochemistry 2016 Aug . Devi Akella Radha Rama, Naushad Shaik Mohamm |
| Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. American journal of human genetics 2016 Aug 99 (2): 437-42. Patat Olivier, Pagin Adrien, Siegfried Aurore, Mitchell Valérie, Chassaing Nicolas, Faguer Stanislas, Monteil Laetitia, Gaston Véronique, Bujan Louis, Courtade-Saïdi Monique, Marcelli François, Lalau Guy, Rigot Jean-Marc, Mieusset Roger, Bieth Er |
| An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. European journal of human genetics : EJHG 2016 Jul . Bonnet Crystel, Riahi Zied, Chantot-Bastaraud Sandra, Smagghe Luce, Letexier Mélanie, Marcaillou Charles, Lefèvre Gaëlle M, Hardelin Jean-Pierre, El-Amraoui Aziz, Singh-Estivalet Amrit, Mohand-Saïd Saddek, Kohl Susanne, Kurtenbach Anne, Sliesoraityte Ieva, Zobor Ditta, Gherbi Souad, Testa Francesco, Simonelli Francesca, Banfi Sandro, Fakin Ana, Glava? Damjan, Jarc-Vidmar Martina, Zupan Andrej, Battelino Saba, Martorell Sampol Loreto, Claveria Maria Antonia, Catala Mora Jaume, Dad Shzeena, Møller Lisbeth B, Rodriguez Jorge Jesus, Hawlina Marko, Auricchio Alberto, Sahel José-Alain, Marlin Sandrine, Zrenner Eberhart, Audo Isabelle, Petit Christi |
| Clinical manifestations of intermediate allele carriers in Huntington disease. Neurology 2016 Jul . Cubo Esther, Ramos-Arroyo María A, Martinez-Horta Saul, Martínez-Descalls Asunción, Calvo Sara, Gil-Polo Cecilia, |
| Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases. Journal of human genetics 2016 Jul . Sundaramurthy Srilekha, Swaminathan Meenakshi, Sen Parveen, Arokiasamy Tharigopala, Deshpande Swati, John Neetha, Gadkari Rupali A, Mannan Ashraf U, Soumittra Nagasa |
| Mutational Spectrum in Holoprosencephaly Shows That Fgf is a New Major Signaling Pathway. Human mutation 2016 Jul . Dubourg Christèle, Carré Wilfrid, Hamdi-Rozé Houda, Mouden Charlotte, Roume Joëlle, Abdelmajid Benmansour, Amram Daniel, Baumann Clarisse, Chassaing Nicolas, Coubes Christine, Faivre-Olivier Laurence, Ginglinger Emmanuelle, Gonzales Marie, Levy-Mozziconacci Annie, Lynch Sally-Ann, Naudion Sophie, Pasquier Laurent, Poidvin Amélie, Prieur Fabienne, Sarda Pierre, Toutain Annick, Dupé Valérie, Akloul Linda, Odent Sylvie, de Tayrac Marie, David Véroniq |
| Prevalence and mutations of ?-thalassemia trait and abnormal hemoglobins in premarital screening in Çanakkale province, Turkey. Balkan journal of medical genetics : BJMG 2016 Jul 19 (1): 29-34. Uluda? A, Uysal A, Uluda? A, Ertekin Y H, Tekin M, Kütük B, Silan F, Özdemir |
| Accuracy of Reverse Dot-Blot PCR in Detection of Different ?-Globin Gene Mutations. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2016 Jun 32 (2): 239-43. El-Fadaly N, Abd-Elhameed A, Abd-Elbar E, El-Shanshory |
| Coinheritance of a Rare Nucleotide Substitution on the ?-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling. Hemoglobin 2016 Jun 1-5. Vinciguerra Margherita, Passarello Cristina, Leto Filippo, Crivello Anna, Fustaneo Maria, Cassarà Filippo, Cannata Monica, Maggio Aurelio, Giambona Antoni |
| Impact of rare variants in ARHGAP29 to the etiology of oral clefts: Role of loss-of-function versus missense variants. Clinical genetics 2016 Jun . Savastano Clarice P, Brito Luciano A, Faria Ágatha C, Setó-Salvia Núria, Peskett Emma, Musso Camila M, Alvizi Lucas, Ezquina Suzana A M, James Chela, GOSgene , Beales Philip, Lees Melissa, Moore Gudrun E, Stanier Philip, Passos-Bueno Maria Ri |
| Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy. Investigative ophthalmology & visual science 2016 May 57 (6): 2377-89. Ji Yanchun, Liang Min, Zhang Juanjuan, Zhu Ling, Zhang Zengjun, Fu Runing, Liu Xiaoling, Zhang Minglian, Fu Qun, Zhao Fuxin, Tong Yi, Sun Yanhong, Jiang Pingping, Guan Min-X |
| Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders. PLoS genetics 2016 May 12 (5): e1005993. Isles Anthony R, Ingason Andrés, Lowther Chelsea, Walters James, Gawlick Micha, Stöber Gerald, Rees Elliott, Martin Joanna, Little Rosie B, Potter Harry, Georgieva Lyudmila, Pizzo Lucilla, Ozaki Norio, Aleksic Branko, Kushima Itaru, Ikeda Masashi, Iwata Nakao, Levinson Douglas F, Gejman Pablo V, Shi Jianxin, Sanders Alan R, Duan Jubao, Willis Joseph, Sisodiya Sanjay, Costain Gregory, Werge Thomas M, Degenhardt Franziska, Giegling Ina, Rujescu Dan, Hreidarsson Stefan J, Saemundsen Evald, Ahn Joo Wook, Ogilvie Caroline, Girirajan Santhosh D, Stefansson Hreinn, Stefansson Kari, O'Donovan Michael C, Owen Michael J, Bassett Anne, Kirov Geor |
| Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome. Archives of medical research 2016 Apr . Kallabi Fakhri, Belghuith Neila, Aloulou Hajer, Kammoun Thouraya, Ghorbel Soufiane, Hajji Mouna, Gallas Syrine, Chemli Jaleleddine, Chabchoub Imen, Azzouz Hatem, Ben Chehida Amel, Sfaihi Lamia, Makni Saloua, Amouri Ali, Keskes Leila, Tebib Neji, Ben Becher Saayda, Hachicha Monjia, Kamoun Hass |
| Germline mutations of the DNA repair pathways in uterine serous carcinoma. Gynecologic oncology 2016 Apr 141 (1): 101-7. Frimer Marina, Levano Kelly S, Rodriguez-Gabin Alicia, Wang Yanhua, Goldberg Gary L, Horwitz Susan Band, Hou June |
| Identification of Novel BRCA Founder Mutations in Middle Eastern Breast Cancer Patients Using Capture and Sanger Sequencing Analysis. International journal of cancer 2016 Apr . Bu Rong, Siraj Abdul K, Al-Obaisi Khadija A S, Beg Shaham, Al Hazmi Mohsen, Ajarim Dahish, Tulbah Asma, Al-Dayel Fouad, Al-Kuraya Khawla |
| New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. Journal of molecular neuroscience : MN 2016 Apr . Piga Daniela, Magri Francesca, Ronchi Dario, Corti Stefania, Cassandrini Denise, Mercuri Eugenio, Tasca Giorgio, Bertini Enrico, Fattori Fabiana, Toscano Antonio, Messina Sonia, Moroni Isabella, Mora Marina, Moggio Maurizio, Colombo Irene, Giugliano Teresa, Pane Marika, Fiorillo Chiara, D'Amico Adele, Bruno Claudio, Nigro Vincenzo, Bresolin Nereo, Comi Giacomo Piet |
| Type 1 serrated polyposis represents a predominantly female disease with a high prevalence of dysplastic serrated adenomas, without germline mutation in MUTYH, APC, and PTEN genes. United European gastroenterology journal 2016 Apr 4 (2): 305-13. Petronio Marco, Pinson Stephane, Walter Thomas, Joly Marie-Odile, Hervieu Valerie, Forestier Julien, Saurin Jean-Christop |
| Breast cancer risk in Chinese women with BRCA1 or BRCA2 mutations. Breast cancer research and treatment 2016 Mar . Yao Lu, Sun Jie, Zhang Juan, He Yingjian, Ouyang Tao, Li Jinfeng, Wang Tianfeng, Fan Zhaoqing, Fan Tie, Lin Benyao, Xie Yunt |
| Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling. Prenatal diagnosis 2016 Mar . Xi Qi, Zhu Xiangyu, Wang Yaping, Ru Tong, Dai Chenyan, Wang Zhiqun, Li Jie, Hu Ya |
| NOVEL AND PREVALENT CYP11B1 GENE MUTATIONS IN TURKISH PATIENTS WITH 11-? HYDROXYLASE DEFICIENCY. The Journal of steroid biochemistry and molecular biology 2016 Mar . Kandemir Nurgun, Yilmaz Didem Yucel, Gonc E Nazli, Ozon Alev, Alikasifoglu Ayfer, Dursun Ali, Ozgul R Koks |
| Novel cases of Tunisian patients with mutations in the gene encoding 17?-hydroxysteroid dehydrogenase type 3 and a founder effect. The Journal of steroid biochemistry and molecular biology 2016 Mar . Ben Rhouma Bochra, Kallabi Fakhri, Mahfoudh Nadia, Ben Mahmoud Afif, Engeli Roger T, Kamoun Hassen, Keskes Leila, Odermatt Alex, Belguith Nei |
| Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. American journal of human genetics 2016 Mar . Mangold Elisabeth, Böhmer Anne C, Ishorst Nina, Hoebel Ann-Kathrin, Gültepe Pinar, Schuenke Hannah, Klamt Johanna, Hofmann Andrea, Gölz Lina, Raff Ruth, Tessmann Peter, Nowak Stefanie, Reutter Heiko, Hemprich Alexander, Kreusch Thomas, Kramer Franz-Josef, Braumann Bert, Reich Rudolf, Schmidt Gül, Jäger Andreas, Reiter Rudolf, Brosch Sibylle, Stavusis Janis, Ishida Miho, Seselgyte Rimante, Moore Gudrun E, Nöthen Markus M, Borck Guntram, Aldhorae Khalid A, Lace Baiba, Stanier Philip, Knapp Michael, Ludwig Kerstin |
| The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type. Gynecologic oncology 2016 Mar . Witkowski Leora, Goudie Catherine, Ramos Pilar, Boshari Talia, Brunet Jean-Sebastien, Karnezis Anthony N, Longy Michel, Knost James A, Saloustros Emmanouil, McCluggage W Glenn, Stewart Colin J R, Hendricks William P D, Cunliffe Heather, Huntsman David G, Pautier Patricia, Levine Douglas A, Trent Jeffrey M, Berchuck Andrew, Hasselblatt Martin, Foulkes William |
| [Mutation analysis of 35 Wilson's disease pedigrees]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016 Feb 33 (1): 30-3. Zong Yanan, Kong Xiangdo |
| Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Feb . Cao Ye, Li Zhihua, Rosenfeld Jill A, Pursley Amber N, Patel Ankita, Huang Jin, Wang Huilin, Chen Min, Sun Xiaofang, Leung Tak Yeung, Cheung Sau Wai, Choy Kwong W |
| Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. Journal of the American Academy of Dermatology 2016 Feb 74 (2): 325-32. Bruno William, Pastorino Lorenza, Ghiorzo Paola, Andreotti Virginia, Martinuzzi Claudia, Menin Chiara, Elefanti Lisa, Stagni Camilla, Vecchiato Antonella, Rodolfo Monica, Maurichi Andrea, Manoukian Siranoush, De Giorgi Vincenzo, Savarese Imma, Gensini Francesca, Borgognoni Lorenzo, Testori Alessandro, Spadola Giuseppe, Mandalà Mario, Imberti Gianlorenzo, Savoia Paola, Astrua Chiara, Ronco Anna Maria, Farnetti Alessandra, Tibiletti Maria Grazia, Lombardo Maurizio, Palmieri Giuseppe, Ayala Fabrizio, Ascierto Paolo, Ghigliotti Giovanni, Muggianu Marisa, Spagnolo Francesco, Picasso Virginia, Tanda Enrica Teresa, Queirolo Paola, Bianchi-Scarrà Giovan |
| Prevalence and genetic analysis of ?- and ?-thalassemia in baise region, a multi-ethnic region in Southern China. Gene 2016 Feb . He Sheng, Qin Qian, Yi Shang, Wei Yuan, Lin Li, Chen Shaoke, Deng Jianping, Xu Xianmin, Zheng Chenguang, Chen Biy |
| Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA. Breast cancer research and treatment 2016 Jan . Quiles Francisco, Menéndez Mireia, Tornero Eva, Del Valle Jesús, Teulé Àlex, Palanca Sarai, Izquierdo Angel, Gómez Carolina, Campos Olga, Santamaria Raül, Brunet Joan, Capellá Gabriel, Feliubadaló Lídia, Lázaro Con |
| Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A. Hormones (Athens, Greece) 2016 Jan . Aghdam Maryam Nasiri, Abbaszadegan Mohammad Reza, Tafazoli JAlireza, Aslzare Mohammad, Mosavi Zohr |
| Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children. Clinical and experimental nephrology 2016 Jan . Dhandapani Mohanapriya Chinambedu, Venkatesan Vettriselvi, Rengaswamy Nammalwar Bollam, Gowrishankar Kalpana, Ekambaram Sudha, Sengutavan Prabha, Perumal Venkatachal |
| Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients. Clinical biochemistry 2016 Jan . Chaves Alejandro, Eberle Silvia Eandi, Defelipe Lucas, Pepe Carolina, Milanesio Berenice, Aguirre Fernando, Fernandez Diego, Turjanski Adrian, Feliú-Torres Auro |
| Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women. Genetics and molecular research : GMR 2016 15 (3): . Gonçalves R O, Fraga L R, Santos W V B, Carvalho A F L, Veloso Cerqueira B A V, Sarno M, Toralles M B P, Vieira M J, Dutra C G, Schüler-Faccini L, Sanseverino M T V, Gonçalves M S, Vianna F S L, Costa O L |
| Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes. Journal of immunology research 2016 2016 8390356. Pulvirenti Federica, Zuntini Roberta, Milito Cinzia, Specchia Fernando, Spadaro Giuseppe, Danieli Maria Giovanna, Pession Andrea, Quinti Isabella, Ferrari Simo |
| Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing. PeerJ 2016 4 e2162. Kang Hyunseok P, Maguire Jared R, Chu Clement S, Haque Imran S, Lai Henry, Mar-Heyming Rebecca, Ready Kaylene, Vysotskaia Valentina S, Evans Eric |
| Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PloS one 2016 11 (3): e0150426. Lal Dennis, Reinthaler Eva M, Dejanovic Borislav, May Patrick, Thiele Holger, Lehesjoki Anna-Elina, Schwarz Günter, Riesch Erik, Ikram M Arfan, Duijn Cornelia M van, Uitterlinden Andre G, Hofman Albert, Steinböck Hannelore, Gruber-Sedlmayr Ursula, Neophytou Birgit, Zara Federico, Hahn Andreas, , , Gormley Padhraig, Becker Felicitas, Weber Yvonne G, Cilio Maria Roberta, Kunz Wolfram S, Krause Roland, Zimprich Fritz, Lemke Johannes R, Nürnberg Peter, Sander Thomas, Lerche Holger, Neubauer Bernd |
| Male cytogenetic evaluation prior to assisted reproduction procedures performed in Mar del Plata, Argentina. Jornal brasileiro de reproduc?a?o assistida 2016 20 (2): 65. Poli María N, Miranda Lucía A López, Gil Eduardo Daniel, Zanier Germán Justo, Iriarte Pedro Fernández, Zanier Justo H Mario, Coco Rober |
| Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR. Molecular vision 2016 22 491-502. Musada Ganeswara Rao, Jalali Subhadra, Hussain Anjli, Chururu Anupama Reddy, Gaddam Pramod Reddy, Chakrabarti Subhabrata, Kaur Inderje |
| RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. Scientific reports 2016 6 19088. Soueid Jihane, Kourtian Silva, Makhoul Nadine J, Makoukji Joelle, Haddad Sariah, Ghanem Simona S, Kobeissy Firas, Boustany Rose-Ma |
| [Genotype Analysis of Hemoglobinopathy in Chinese Jiangsu Population]. Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 2015 Dec 23 (6): 1742-8. Wang Wen-Juan, Xie Jun-Dan, Wang Qian, Tao Ting-Ting, Yao Hong, Wen Li-Jun, Zhou You-Ning, Chen Su-Ni |
| Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. Mitochondrion 2015 Dec 26 81-85. Paramasivam Arumugam, Meena Angamuthu Kannan, Pedaparthi Lalitha, Jyothi Vuskamalla, Uppin Megha S, Jabeen Shaikh Afshan, Sundaram Challa, Thangaraj Kumarasa |
| Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failure. Annales d'endocrinologie 2015 Nov . Bouali Nouha, Hmida Dorra, Mougou Soumaya, Bouligand Jérôme, Lakhal Besma, Dimessi Sarra, Francou Bruno, Saad Ghada, Trabelsi Saoussen, Zaouali Monia, Gribaa Moez, Chaieb Molka, Bibi Mouhamed, Guiochon-Mantel Anne, Saad A |
| Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. World journal of pediatrics : WJP 2015 Nov 11 (4): 358-65. Han Lian-Shu, Huang Zhuo, Han Feng, Ye Jun, Qiu Wen-Juan, Zhang Hui-Wen, Wang Yu, Gong Zhu-Wen, Gu Xue-F |
| Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS genetics 2015 Nov 11 (11): e1005637. Tyburczy Magdalena E, Dies Kira A, Glass Jennifer, Camposano Susana, Chekaluk Yvonne, Thorner Aaron R, Lin Ling, Krueger Darcy, Franz David N, Thiele Elizabeth A, Sahin Mustafa, Kwiatkowski David |
| Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. Molecular genetics & genomic medicine 2015 Nov 3 (6): 526-36. Fan Zi-Chuan, Ni Jin-Wen, Yang Lin, Hu Li-Yuan, Ma Si-Min, Mei Mei, Sun Bi-Jun, Wang Hui-Jun, Zhou Wen-H |
| Dissimilarity between sporadic, non-BRCA1/2 families and hereditary breast cancer, linked to BRCA genes, in the Tunisian population. Breast cancer (Tokyo, Japan) 2015 Oct . Riahi Aouatef, Gourabi Mohamel El, Chabouni-Bouhamed Habi |
| Effect of BRCA2 mutation on familial breast cancer survival: A systematic review and meta-analysis. Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban 2015 Oct 35 (5): 629-34. Shao Jun, Yang Jie, Wang Jun-Nai, Qiao Long, Fan Wei, Gao Qing-Lei, Feng Yao-J |
| Germline Mutations of BRCA1 and BRCA2 in Korean Ovarian Cancer Patients: Finding Founder Mutations. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2015 Oct 25 (8): 1386-91. Choi Min Chul, Heo Jin-Hyung, Jang Ja-Hyun, Jung Sang Geun, Park Hyun, Joo Won Duk, Lee Chan, Lee Je Ho, Lee Jun Mo, Hwang Yoon Young, Kim Seung |
| Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2015 Oct 272 (10): 2765-76. Beck Christopher, Pérez-Álvarez Jose Carmelo, Sigruener Alexander, Haubner Frank, Seidler Till, Aslanidis Charalampos, Strutz Jürgen, Schmitz Ge |
| Identification of germline genetic mutations in patients with pancreatic cancer. Cancer 2015 Oct . Salo-Mullen Erin E, O'Reilly Eileen M, Kelsen David P, Ashraf Asad M, Lowery Maeve A, Yu Kenneth H, Reidy Diane L, Epstein Andrew S, Lincoln Anne, Saldia Amethyst, Jacobs Lauren M, Rau-Murthy Rohini, Zhang Liying, Kurtz Robert C, Saltz Leonard, Offit Kenneth, Robson Mark E, Stadler Zsofia |
| Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Human mutation 2015 Sep . Machado Rajiv D, Southgate Laura, Eichstaedt Christina A, Aldred Micheala A, Austin Eric D, Best D Hunter, Chung Wendy K, Benjamin Nicola, Elliott C Gregory, Eyries Mélanie, Fischer Christine, Gräf Stefan, Hinderhofer Katrin, Humbert Marc, Keiles Steven B, Loyd James E, Morrell Nicholas W, Newman John H, Soubrier Florent, Trembath Richard C, Viales Rebecca Rodríguez, Grünig Ekkeha |
| RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling. European journal of human genetics : EJHG 2015 Sep . Widowati Titis, Melhem Shamiram, Patria Suryono Y, de Graaf Bianca M, Sinke Richard J, Viel Martijn, Dijkhuis Jos, Sadewa Ahmad H, Purwohardjono Rochadi, Soenarto Yati, Hofstra Robert Mw, Sribudiani Yun |
| Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. Gene 2015 Sep 569 (1): 83-7. Guggilla Sreenivasa Rao, Senagari Jalandhar Reddy, Rao P N, Madireddi Sujat |
| A high frequency of BRCA mutations in young black women with breast cancer residing in Florida. Cancer 2015 Aug . Pal Tuya, Bonner Devon, Cragun Deborah, Monteiro Alvaro N A, Phelan Catherine, Servais Lily, Kim Jongphil, Narod Steven A, Akbari Mohammad R, Vadaparampil Susan |
| Deleterious BRCA1/2 mutations in an urban population of Black women. Breast cancer research and treatment 2015 Aug 153 (1): 201-9. Lynce Filipa, Smith Karen Lisa, Stein Julie, DeMarco Tiffani, Wang Yiru, Wang Hongkun, Fries Melissa, Peshkin Beth N, Isaacs Claudi |
| Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. Pediatric nephrology (Berlin, Germany) 2015 Aug 30 (8): 1279-87. Cil Onur, Besbas Nesrin, Duzova Ali, Topaloglu Rezan, Peco-Anti? Amira, Korkmaz Emine, Ozaltin Fat |
| Molecular Epidemiological Investigation of Thalassemia in the Chengdu Region, Sichuan Province, Southwest China. Hemoglobin 2015 Aug 1-5. Yu Xia, Yang Li-Ye, Yang Hui-Tian, Liu Cheng-Gui, Cao Deng-Cheng, Shen Wei, Yang Hui, Zhan Xiao-Fen, Li Jian, Xue Bing-Rong, Lin M |
| Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations. Journal of endocrinological investigation 2015 Aug . Milacic I, Barac M, Milenkovic T, Ugrin M, Klaassen K, Skakic A, Jesic M, Joksic I, Mitrovic K, Todorovic S, Vujovic S, Pavlovic S, Stojiljkovic |
| Perceptions of Latinas on the Traditional Prenatal Genetic Counseling Model. Journal of genetic counseling 2015 Aug 24 (4): 675-82. Thompson Stephanie, Noblin Sarah Jane, Lemons Jennifer, Peterson Susan K, Carreno Carlos, Harbison Andr |
| Phenotype and Genotype in a Cohort of 312 Adult Patients with Nontransfusion-Dependent Thalassemia in Northeast Thailand. Acta haematologica 2015 Aug 135 (1): 15-20. Prayalaw Patcharawadee, Teawtrakul Nattiya, Jetsrisuparb Arunee, Pongudom Saranya, Fucharoen Goonnapa, Fucharoen Sup |
| Prevalence of hemoglobin E in Yunnan Province of Southwest China. Hematology (Amsterdam, Netherlands) 2015 Aug . He Jing, Zeng Xiaohong, Zhang Yinhong, Su Jie, Ding Xuemei, Li Suyun, Xu Yongmei, Pu Jian, Jin Chanchan, Zhu Baoshe |
| Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Aug 17 (8): 630-8. Maxwell Kara N, Wubbenhorst Bradley, D'Andrea Kurt, Garman Bradley, Long Jessica M, Powers Jacquelyn, Rathbun Katherine, Stopfer Jill E, Zhu Jiajun, Bradbury Angela R, Simon Michael S, DeMichele Angela, Domchek Susan M, Nathanson Katherine |
| Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M). European journal of human genetics : EJHG 2015 Aug . Santos Diana, Coelho Teresa, Alves-Ferreira Miguel, Sequeiros Jorge, Mendonça Denisa, Alonso Isabel, Lemos Carolina, Sousa Al |
| Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population. Journal of human genetics 2015 Jul . Taniguchi Mirei, Matsuo Hirotaka, Shimizu Seiko, Nakayama Akiyoshi, Suzuki Koji, Hamajima Nobuyuki, Shinomiya Nariyoshi, Nishio Shinya, Kosugi Shinji, Usami Shin-Ichi, Ito Juichi, Kitajiri Shin-Ichi |
| Distribution of alpha-thalassemia mutations in Iranian population. Hematology (Amsterdam, Netherlands) 2015 Jul 20 (6): 359-62. Dehbozorgian Javad, Moghadam Mohamad, Daryanoush Saeed, Haghpanah Sezaneh, Imani Fard Jaber, Aramesh Azam, Shahsavani Amin, Karimi Mehr |
| New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients. Chinese medical journal 2015 Jul 128 (13): 1707-13. Lin Feng, Wang Zhi-Qiang, Lin Min-Ting, Murong Shen-Xing, Wang Ni |
| Double PALB2 and BRCA1/BRCA2 mutation carriers are rare in breast cancer and breast-ovarian cancer syndrome families from the French Canadian founder population. Oncology letters 2015 Jun 9 (6): 2787-2790. Ancot Frédéric, Arcand Suzanna L, Mes-Masson Anne-Marie, Provencher Diane M, Tonin Patricia |
| Genetic features of Lynch syndrome in the Israeli population. Clinical genetics 2015 Jun 87 (6): 549-53. Goldberg Y, Barnes-Kedar I, Lerer I, Halpern N, Plesser M, Hubert A, Kadouri L, Goldshmidt H, Solar I, Strul H, Rosner G, Baris H N, Peretz T, Levi Z, Kariv |
| Mutation and new polymorphisms insight in introns 11 to 14a of CFTR gene of northern Iranian cystic fibrosis patients. Gene 2015 Jun 564 (2): 193-6. Esmaeili Dooki Mohammad Reza, Tabaripour Reza, Rahimi Razieh, Akhavan-Niaki Hal |
| Spectrum of ?-thalassemia and ?-thalassemia mutations in the Guilin Region of southern China. Clinical biochemistry 2015 Jun . Tang Wenjun, Zhang Chonglin, Lu Fangfang, Tang Juan, Lu Yu, Cui Xiu, Qin Xue, Li Sh |
No hay comentarios:
Publicar un comentario