A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population

JOURNAL ARTICLE published August 2014 in Journal of Medical Genetics

Authors: Chikashi Terao | Naoki Terada | Keitaro Matsuo | Takahisa Kawaguchi | Koji Yoshimura | Norio Hayashi | Masakazu Shimizu | Norihito Soga | Meiko Takahashi | Yoshihiko Kotoura | Ryo Yamada | Osamu Ogawa | Fumihiko Matsuda | Nagahama Cohort Study Group

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome

JOURNAL ARTICLE published 1 October 1999 in Journal of Medical Genetics

Authors: S. Manouvrier-Hanu | J. Amiel | S. Jacquot | K. Merienne | A. Moerman | A. Coeslier | F. Labarriere | L. Vallee | M. F. Croquette | A. Hanauer

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

JOURNAL ARTICLE published September 2018 in Journal of Medical Genetics

Authors: Yeshaya Langer | Adi Aran | Suleyman Gulsuner | Bassam Abu Libdeh | Paul Renbaum | Dario Brunetti | Pedro-Filipe Teixeira | Tom Walsh | Sharon Zeligson | Roberta Ruotolo | Rachel Beeri | Imad Dweikat | Maher Shahrour | Ariella Weinberg-Shukron | Fouad Zahdeh | Enrico Baruffini | Elzbieta Glaser | Mary-Claire King | Ephrat Levy-Lahad | Massimo Zeviani | Reeval Segel

A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family

JOURNAL ARTICLE published 1 January 1999 in Journal of Medical Genetics

Authors: Jian Y Xuan | Rhiannon M Hughes-Benzie | Alex E MacKenzie

A novel mutation in the GFAP gene expands the phenotype of Alexander disease

JOURNAL ARTICLE published December 2019 in Journal of Medical Genetics

Research funded by Fundació la Marató de TV3 (345/C/2014) | Centre for Biomedical Research on Rare Diseases (ACCI14-759) | Ministerio de Economia, Industria y Competividad (Juan de la Cierva, FJCI-2016-28811) | Secretariat for Universities and Research of the Ministry of Business and Knowledge of the Government of Catalonia (2017SGR1206) | Instituto de Salud Carlos III (Miguel Servet programme CPII16/00016,PI14/00581)

Authors: Carlos Casasnovas | Edgard Verdura | Valentina Vélez | Agatha Schlüter | Albert Pons-Escoda | Christian Homedes | Montserrat Ruiz | Stéphane Fourcade | Nathalie Launay | Aurora Pujol

Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

JOURNAL ARTICLE published 28 March 2024 in Journal of Medical Genetics

Research funded by Ministerio de Ciencia e Innovación (PID2019-107188RB-C21,PID2022-141461OB-I00) | FUNDACIÓ Sant Joan de Déu- Barcelona (MC-P recipient of Carmen de Torres fellowship) | Instituto de Salud Carlos III (CIBERER ACCI19P2AC720-1) | Ministerio de Universidades (AP-P and EA-C recipients of FPU fellowships)

Authors: Mónica Centeno-Pla | Estefanía Alcaide-Consuegra | Sophie Gibson | Aina Prat-Planas | Juan Diego Gutiérrez-Ávila | Daniel Grinberg | Roser Urreizti | Raquel Rabionet | Susanna Balcells

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum

JOURNAL ARTICLE published September 2023 in Journal of Medical Genetics

Authors: Maria Francesca Di Feo | Victoria Lillback | Manu Jokela | Meriel McEntagart | Tessa Homfray | Elisa Giorgio | Guido C Casalis Cavalchini | Alfredo Brusco | Maria Iascone | Luigina Spaccini | Patrizia D'Oria | Marco Savarese | Bjarne Udd

Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions

JOURNAL ARTICLE published 1 May 2011 in Journal of Medical Genetics

Authors: A. M. Joseph-George | Y. He | C. R. Marshall | R. C. C. Wong | J. R. MacDonald | C. A. Fahey | D. Chitayat | K. Chun | G. Ryan | A. M. Summers | E. J. T. Winsor | S. W. Scherer

Prostate cancer risk assessment model: a scoring model based on the Swedish Family-Cancer Database

JOURNAL ARTICLE published May 2012 in Journal of Medical Genetics

Authors: Hassan Roudgari | Kari Hemminki | Andreas Brandt | Jan Sundquist | Mahdi Fallah

Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb

JOURNAL ARTICLE published 1 June 2009 in Journal of Medical Genetics

Authors: J H M Schuurs-Hoeijmakers | S Vermeer | B W M van Bon | R Pfundt | C Marcelis | A P M de Brouwer | N de Leeuw | B. B A de Vries

Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability

JOURNAL ARTICLE published 1 September 2011 in Journal of Medical Genetics

Authors: C. Beneteau | E. Landais | M. Doco-Fenzy | C. Gavazzi | C. Philippe | M. Beri-Dexheimer | C. Bonnet | J. Vigneron | P. Walrafen | J. Motte | B. Leheup | P. Jonveaux

Correction

JOURNAL ARTICLE published March 2015 in Journal of Medical Genetics

A homozygous variant inCHMP3is associated with complex hereditary spastic paraplegia

JOURNAL ARTICLE published March 2023 in Journal of Medical Genetics

Authors: Eran Cohen-Barak | Nada Danial-Farran | Elana Chervinsky | Ola Alimi-Kasem | Fadia Zagairy | Ido Livneh | Bannan Mawassi | Maysa Hreish | Morad Khayat | Alexander Lossos | Vardiella Meiner | Nina Ehilevitch | Karin Weiss | Stavit Shalev

Identification of a frameshift mutation in the gene TWISTin a family affected with Robinow-Sorauf syndrome

JOURNAL ARTICLE published 1 August 1999 in Journal of Medical Genetics

Authors: JÜRGEN KUNZ | MELANIE HUDLER | BARBARA FRITZ | GABRIELE GILLESSEN-KAESBACH | EBERHARD PASSARGE

Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1

JOURNAL ARTICLE published 1 June 2001 in Journal of Medical Genetics

Authors: J A P Hiel | C M R Weemaes | B G M van Engelen | D Smeets | M Ligtenberg | I van der Burgt | L P W J van den Heuvel | K M Cerosaletti | F J M Gabreëls | P Concannon

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype

JOURNAL ARTICLE published 1 May 2011 in Journal of Medical Genetics

Authors: M. Balasubramanian | K. Smith | L. Basel-Vanagaite | M. F. Feingold | P. Brock | G. C. Gowans | P. C. Vasudevan | L. Cresswell | E. J. Taylor | C. J. Harris | N. Friedman | R. Moran | H. Feret | E. H. Zackai | A. Theisen | J. A. Rosenfeld | M. J. Parker

Correction

JOURNAL ARTICLE published March 2012 in Journal of Medical Genetics

Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)

JOURNAL ARTICLE published July 2022 in Journal of Medical Genetics

Authors: Ellenore M Martin | Ying Zhu | Claudine M Kraan | Kishore R Kumar | David E Godler | Michael Field

Variable phenotypic expression of COG6 mutations

JOURNAL ARTICLE published June 2014 in Journal of Medical Genetics

Authors: Fowzan S Alkuraya | Ranad Shaheen

Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics

JOURNAL ARTICLE published February 2021 in Journal of Medical Genetics

Authors: Maram Arafat | Avi Harlev | Iris Har-Vardi | Eliahu Levitas | Tsvia Priel | Moran Gershoni | Charles Searby | Val C Sheffield | Eitan Lunenfeld | Ruti Parvari