Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

JOURNAL ARTICLE published April 2019 in Journal of Medical Genetics

Authors: Ian M Frayling | Victor-Felix Mautner | Rick van Minkelen | Roope A Kallionpaa | Safiye Aktaş | Diana Baralle | Shay Ben-Shachar | Alison Callaway | Harriet Cox | Diana M Eccles | Salah Ferkal | Holly LaDuca | Conxi Lázaro | Mark T Rogers | Aaron J Stuenkel | Pia Summerour | Ali Varan | Yoon Sim Yap | Ouidad Zehou | Juha Peltonen | D Gareth Evans | Pierre Wolkenstein | Meena Upadhyaya

Encephalocraniocutaneous lipomatosis

JOURNAL ARTICLE published 1 November 2009 in Journal of Medical Genetics

Authors: U Moog

The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

JOURNAL ARTICLE published May 2012 in Journal of Medical Genetics

Authors: Eva d'Hennezel | Khalid Bin Dhuban | Troy Torgerson | Ciriaco Piccirillo

Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human

JOURNAL ARTICLE published 1 June 2010 in Journal of Medical Genetics

Authors: S. Tierling | N. Y. Souren | J. Gries | C. LoPorto | M. Groth | P. Lutsik | H. Neitzel | I. Utz-Billing | G. Gillessen-Kaesbach | H. Kentenich | G. Griesinger | K. Sperling | E. Schwinger | J. Walter

Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy

JOURNAL ARTICLE published February 2022 in Journal of Medical Genetics

Research funded by National Natural Foundation of China (81801545) | Shanghai Municipal Health Commission (2017ZZ01008) | National Key Research and Development Project (2018YFA0801102) | National Natural Science Foundation of China (NSFC-8182207) | Program of Shanghai Academic/Technology Research Leader (19XD1420600) | Chinese Academy of Medical Sciences (2019-RC-HL_020) | Henan Municipal Health Commission (LHGJ20190923)

Authors: Xiaoshan Tang | Cuihua Liu | Xiaorong Liu | Jing Chen | Xiaoyan Fan | Jialu Liu | Duan Ma | Guanghai Cao | Zhi Chen | Daliang Xu | Ying Zhu | Xiaoyun Jiang | Lizhi Cheng | Yubing Wu | Ling Hou | Yuhong Li | Xiaoshan Shao | Shasha Zheng | Aihua Zhang | Bixia Zheng | Shan Jian | Zanhua Rong | Qingxiao Su | Xia Gao | Jia Rao | Qian Shen | Hong Xu | Chinese Children Genetic Kidney Disease Database (CCGKDD)

A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length

JOURNAL ARTICLE published 1 July 2009 in Journal of Medical Genetics

Authors: M Mangino | J B Richards | N Soranzo | G Zhai | A Aviv | A M Valdes | N J Samani | P Deloukas | T D Spector

Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation

JOURNAL ARTICLE published 1 December 2009 in Journal of Medical Genetics

Authors: M Sevin | Z Kutalik | S Bergman | M Vercelletto | P Renou | E Lamy | F J Vingerhoets | G Di Virgilio | P Boisseau | S Bezieau | L Pasquier | J-M Rival | J S Beckmann | P Damier | S Jacquemont

Exome sequencing identifiesSLC17A9pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis

JOURNAL ARTICLE published October 2014 in Journal of Medical Genetics

Authors: Hongzhou Cui | Longnian Li | Wenjun Wang | Jie Shen | Zhen Yue | Xiaodong Zheng | Xianbo Zuo | Bo Liang | Min Gao | Xing Fan | Xianyong Yin | Changbing Shen | Chao Yang | Change Zhang | Xiaoguang Zhang | Yujun Sheng | Jinping Gao | Zhengwei Zhu | Da Lin | Anping Zhang | Zaixing Wang | Shengxiu Liu | Liangdan Sun | Sen Yang | Yong Cui | Xuejun Zhang

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells

JOURNAL ARTICLE published May 2017 in Journal of Medical Genetics

Authors: Julie Steffann | Aurore Pouliet | Houda Adjal | Christine Bole | Cécile Fourrage | Jelena Martinovic | Louise Rolland-Galmiche | Agnes Rotig | Frédéric Tores | Arnold Munnich | Jean-Paul Bonnefont

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

JOURNAL ARTICLE published September 2013 in Journal of Medical Genetics

Authors: Olaf R F Mook | Martin A Haagmans | Jean-François Soucy | Judith B A van de Meerakker | Frank Baas | Marja E Jakobs | Nynke Hofman | Imke Christiaans | Ronald H Lekanne Deprez | Marcel M A M Mannens

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

JOURNAL ARTICLE published September 2012 in Journal of Medical Genetics

Authors: Matthias Begemann | Sabrina Spengler | Magdalena Gogiel | Ute Grasshoff | Michael Bonin | Regina C Betz | Andreas Dufke | Isabel Spier | Thomas Eggermann

Identification of a large rearrangement of theBRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing

JOURNAL ARTICLE published 1 June 2001 in Journal of Medical Genetics

Authors: Sophie Gad | Maren T Scheuner | Sabine Pages-Berhouet | Virginie Caux-Moncoutier | Aaron Bensimon | Alain Aurias | Mark Pinto | Dominique Stoppa-Lyonnet

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

JOURNAL ARTICLE published 18 March 2008 in Journal of Medical Genetics

Authors: D Bartholdi | M Krajewska-Walasek | K Ounap | H Gaspar | K H Chrzanowska | H Ilyana | H Kayserili | I W Lurie | A Schinzel | A Baumer

E-cadherinis not frequently mutated in hereditary gastric cancer

JOURNAL ARTICLE published 1 January 2001 in Journal of Medical Genetics

Authors: E. AVIZIENYTE | V. LAUNONEN | R. SALOVAARA | T. KIVILUOTO | L. A. AALTONEN

Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses

JOURNAL ARTICLE published October 2015 in Journal of Medical Genetics

Authors: Sali M K Farhan | Jian Wang | John F Robinson | Asuri N Prasad | C Anthony Rupar | Victoria M Siu | Robert A Hegele | FORGE Canada Consortium

CDH1germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study

JOURNAL ARTICLE published July 2013 in Journal of Medical Genetics

Authors: Patrick R Benusiglio | David Malka | Etienne Rouleau | Antoine De Pauw | Bruno Buecher | Catherine Noguès | Emmanuelle Fourme | Chrystelle Colas | Florence Coulet | Mathilde Warcoin | Sophie Grandjouan | Alain Sezeur | Pierre Laurent-Puig | Diane Molière | Camille Tlemsani | Marina Di Maria | Veronique Byrde | Suzette Delaloge | Martine Blayau | Olivier Caron

Anxiety delivered direct-to-consumer: are we asking the right questions about the impacts of DTC genetic testing?

JOURNAL ARTICLE published December 2016 in Journal of Medical Genetics

Authors: Serena Oliveri | Heidi C Howard | Chiara Renzi | Mats G Hansson | Gabriella Pravettoni

TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex

JOURNAL ARTICLE published 1 July 2009 in Journal of Medical Genetics

Authors: D A Muzykewicz | A Sharma | V Muse | A L Numis | J Rajagopal | E A Thiele

A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus

JOURNAL ARTICLE published 1 July 1999 in Journal of Medical Genetics

Authors: Guy Van Camp | Henricus Kunst | Kris Flothmann | Wyman McGuirt | Jan Wauters | Henri Marres | Margriet Verstreken | Irina N Bespalova | Margit Burmeister | Paul H Van de Heyning | Richard J H Smith | Patrick J Willems | Cor W R J Cremers | Marci M Lesperance

Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer

JOURNAL ARTICLE published 1 August 2011 in Journal of Medical Genetics

Authors: D. G. Evans | A. Howell | D. Ward | F. Lalloo | J. L. Jones | D. M. Eccles