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  • Clinical application of exome sequencing in undiagnosed genetic conditions

    • Anna C Need,
    • Vandana Shashi,
    • Yuki Hitomi,
    • Kelly Schoch,
    • Kevin V Shianna,
    • Marie T McDonald,
    • Miriam H Meisler,
    • David B Goldstein
    J. Med. Genet.  2012;  doi:10.1136/jmedgenet-2012-100819
    Open Access Article

  • Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder

    • Jirair Krikor Bedoyan,
    • Valerie M Schaibley,
    • Weiping Peng,
    • Yongsheng Bai,
    • Kajari Mondal,
    • Amol C Shetty,
    • Mark Durham,
    • Joseph A Micucci,
    • Arti Dhiraaj,
    • Jennifer M Skidmore,
    • Julie B Kaplan,
    • Cindy Skinner,
    • Charles E Schwartz,
    • Anthony Antonellis,
    • Michael E Zwick,
    • James D Cavalcoli,
    • Jun Z Li,
    • Donna M Martin
    J. Med. Genet.  2012;49:332-340  doi:10.1136/jmedgenet-2011-100575
    Open Access Article

  • Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24

    • Angela M Jones,
    • Kimberley M Howarth,
    • Lynn Martin,
    • Maggie Gorman,
    • Radu Mihai,
    • Laura Moss,
    • Adam Auton,
    • Catherine Lemon,
    • Hisham Mehanna,
    • Hosahalli Mohan,
    • Susan E M Clarke,
    • Jonathan Wadsley,
    • Elena Macias,
    • Andrew Coatesworth,
    • Matthew Beasley,
    • Tom Roques,
    • Craig Martin,
    • Paul Ryan,
    • Georgina Gerrard,
    • Danielle Power,
    • Caroline Bremmer,
    • The TCUKIN Consortium,
    • Ian Tomlinson,
    • Luis G Carvajal-Carmona
    J. Med. Genet.  2012;49:158-163  doi:10.1136/jmedgenet-2011-100586
    Open Access Article

  • Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24

    • Angela M Jones,
    • Kimberley M Howarth,
    • Lynn Martin,
    • Maggie Gorman,
    • Radu Mihai,
    • Laura Moss,
    • Adam Auton,
    • Catherine Lemon,
    • Hisham Mehanna,
    • Hosahalli Mohan,
    • Susan EM Clarke,
    • Jonathan Wadsley,
    • Elena Macias,
    • Andrew Coatesworth,
    • Matthew Beasley,
    • Tom Roques,
    • Craig Martin,
    • Paul Ryan,
    • Georgina Gerrard,
    • Danielle Power,
    • Caroline Bremmer,
    • The TCUKIN Consortium,
    • Ian Tomlinson,
    • Luis G Carvajal-Carmona
    J. Med. Genet.  2012;  doi:10.1136/jmedgenet-2011-100586
    Open Access Article

  • Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis

    • Jingyun Li,
    • Xilin Zhu,
    • Xin Wang,
    • Wei Sun,
    • Bing Feng,
    • Te Du,
    • Bei Sun,
    • Fenghe Niu,
    • Hua Wei,
    • Xiaopan Wu,
    • Lei Dong,
    • Liping Li,
    • Xingqiu Cai,
    • Yuping Wang,
    • Ying Liu
    J. Med. Genet.  2012;49:76-78  doi:10.1136/jmedgenet-2011-100635
    Open Access Article

  • A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

    • A-M Molin,
    • J Andrieux,
    • D A Koolen,
    • V Malan,
    • M Carella,
    • L Colleaux,
    • V Cormier-Daire,
    • A David,
    • N de Leeuw,
    • B Delobel,
    • B Duban-Bedu,
    • R Fischetto,
    • F Flinter,
    • S Kjaergaard,
    • F Kok,
    • A C Krepischi,
    • C Le Caignec,
    • C Mackie Ogilvie,
    • S Maia,
    • M Mathieu-Dramard,
    • A Munnich,
    • O Palumbo,
    • F Papadia,
    • R Pfundt,
    • W Reardon,
    • A Receveur,
    • M Rio,
    • L Ronsbro Darling,
    • C Rosenberg,
    • J Sá,
    • L Vallee,
    • C Vincent-Delorme,
    • L Zelante,
    • M-L Bondeson,
    • G Annerén
    J. Med. Genet.  2012;49:104-109  doi:10.1136/jmedgenet-2011-100534
    Open Access Article

  • Further clinical and molecular delineation of the 15q24 microdeletion syndrome

    • Heather C Mefford,
    • Jill A Rosenfeld,
    • Natasha Shur,
    • Anne M Slavotinek,
    • Victoria A Cox,
    • Raoul C Hennekam,
    • Helen V Firth,
    • Lionel Willatt,
    • Patricia Wheeler,
    • Eric M Morrow,
    • Joseph Cook,
    • Rachel Sullivan,
    • Albert Oh,
    • Marie T McDonald,
    • Jonathan Zonana,
    • Kory Keller,
    • Mark C Hannibal,
    • Susie Ball,
    • Jennifer Kussmann,
    • Jerome Gorski,
    • Susan Zelewski,
    • Valerie Banks,
    • Wendy Smith,
    • Rosemarie Smith,
    • Lindsay Paull,
    • Kenneth N Rosenbaum,
    • David J Amor,
    • Joao Silva,
    • Allen Lamb,
    • Evan E Eichler
    J. Med. Genet.  2012;49:110-118  doi:10.1136/jmedgenet-2011-100499
    Open Access Article

  • Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24

    • Angela M Jones,
    • Kimberley M Howarth,
    • Lynn Martin,
    • Maggie Gorman,
    • Radu Mihai,
    • Laura Moss,
    • Adam Auton,
    • Catherine Lemon,
    • Hisham Mehanna,
    • Hosahalli Mohan,
    • Susan EM Clarke,
    • Jonathan Wadsley,
    • Elena Macias,
    • Andrew Coatesworth,
    • Matthew Beasley,
    • Tom Roques,
    • Craig Martin,
    • Paul Ryan,
    • Georgina Gerrard,
    • Danielle Power,
    • Caroline Bremmer,
    • The TCUKIN Consortium,
    • Ian Tomlinson,
    • Luis G Carvajal Carmona
    J. Med. Genet.  2012;  doi:10.1136/jmedgenet-2011-100586
    Open Access Article

  • A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation

    • Marlene D Dalgaard,
    • Nils Weinhold,
    • Daniel Edsgärd,
    • Jeremy D Silver,
    • Tune H Pers,
    • John E Nielsen,
    • Niels Jørgensen,
    • Anders Juul,
    • Thomas A Gerds,
    • Aleksander Giwercman,
    • Yvonne L Giwercman,
    • Gabriella Cohn-Cedermark,
    • Helena E Virtanen,
    • Jorma Toppari,
    • Gedske Daugaard,
    • Thomas S Jensen,
    • Søren Brunak,
    • Ewa Rajpert-De Meyts,
    • Niels E Skakkebæk,
    • Henrik Leffers,
    • Ramneek Gupta
    J. Med. Genet.  2012;49:58-65  doi:10.1136/jmedgenet-2011-100174

  • Further clinical and molecular delineation of the 15q24 microdeletion syndrome

    • Heather C Mefford,
    • Jill A Rosenfeld,
    • Natasha Shur,
    • Anne M Slavotinek,
    • Victoria A Cox,
    • Raoul C Hennekam,
    • Helen V Firth,
    • Lionel Willatt,
    • Patricia Wheeler,
    • Eric M Morrow,
    • Joseph Cook,
    • Rachel Sullivan,
    • Albert Oh,
    • Marie T McDonald,
    • Jonathan Zonana,
    • Kory Keller,
    • Mark C Hannibal,
    • Susie Ball,
    • Jennifer Kussmann,
    • Jerome Gorski,
    • Susan Zelewski,
    • Valerie Banks,
    • Wendy Smith,
    • Rosemarie Smith,
    • Lindsay Paull,
    • Kenneth N Rosenbaum,
    • David J Amor,
    • Joao Silva,
    • Allen Lamb,
    • Evan E Eichler
    J. Med. Genet.  2011;  doi:10.1136/jmedgenet-2011-100499
    Open Access Article
Next Results »

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