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Showing results for ISSN matching 0022-2593

Mutations inDYNC1H1cause severe intellectual disability with neuronal migration defects

JOURNAL ARTICLE published March 2012 in Journal of Medical Genetics

Authors: Marjolein H Willemsen | Lisenka E L Vissers | Michèl A A P Willemsen | Bregje W M van Bon | Thessa Kroes | Joep de Ligt | Bert B de Vries | Jeroen Schoots | Dorien Lugtenberg | Ben C J Hamel | Hans van Bokhoven | Han G Brunner | Joris A Veltman | Tjitske Kleefstra

https://doi.org/10.1136/jmedgenet-2011-100542 Actions

Fragile X syndrome: from molecular genetics to therapy

JOURNAL ARTICLE published 1 September 2009 in Journal of Medical Genetics

Authors: C D'Hulst | R F Kooy

https://doi.org/10.1136/jmg.2008.064667 Actions

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

JOURNAL ARTICLE published March 2013 in Journal of Medical Genetics

Authors: Christopher J Carroll | Pirjo Isohanni | Rosanna Pöyhönen | Liliya Euro | Uwe Richter | Virginia Brilhante | Alexandra Götz | Taina Lahtinen | Anders Paetau | Helena Pihko | Brendan J Battersby | Henna Tyynismaa | Anu Suomalainen

https://doi.org/10.1136/jmedgenet-2012-101375 Actions

Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s disease

JOURNAL ARTICLE published May 2020 in Journal of Medical Genetics

Authors: Hampton Leonard | Cornelis Blauwendraat | Lynne Krohn | Faraz Faghri | Hirotaka Iwaki | Glen Ferguson | Aaron G Day-Williams | David J Stone | Andrew B Singleton | Mike A Nalls | Ziv Gan-Or

https://doi.org/10.1136/jmedgenet-2019-106283 Actions

2017 Thank you to our reviewers

JOURNAL ARTICLE published April 2018 in Journal of Medical Genetics

https://doi.org/10.1136/jmedgenet-2018-reviewers Actions

MG-141 A further report of paediatric cancer and cleidocranial dysplasia raises the possibility of a causative association of weak effect

JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics

Authors: Anna Lehman | Edward Tseng | Michelle Ning | Zheyuan Zong | Seong-Hwan Jun

https://doi.org/10.1136/jmedgenet-2015-103577.30 Actions

FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

JOURNAL ARTICLE published November 2022 in Journal of Medical Genetics

Research funded by National Heart, Lung, and Blood Institute (UM1 HG008900) | National Human Genome Research Institute (R01 HG009141) | NHMRC (APP1122952,APP2002640)

Authors: Magdalena Mroczek | Cheryl Longman | Maria Elena Farrugia | Solange Kapetanovic Garcia | Didem Ardicli | Haluk Topaloglu | Aurelio Hernández-Laín | Diclehan Orhan | Mehmet Alikasifoglu | Jennifer Duff | Sabine Specht | Kristen Nowak | Gianina Ravenscroft | Katherine Chao | Zaheer Valivullah | Sandra Donkervoort | Dimah Saade | Carsten Bönnemann | Volker Straub | Grace Yoon

https://doi.org/10.1136/jmedgenet-2021-108341 Actions

Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners

JOURNAL ARTICLE published September 2023 in Journal of Medical Genetics

Research funded by Oxford Biomedical Research (219476/Z/19/Z,BRC 593413) | Wellcome Trust (203132/Z/16/Z)

Authors: Alison C Kay | Jonathan Wells | Nina Hallowell | Anne Goriely

https://doi.org/10.1136/jmg-2023-109183 Actions

Rare variants in XRCC2 as breast cancer susceptibility alleles: Table 1

JOURNAL ARTICLE published October 2012 in Journal of Medical Genetics

Authors: Florentine S Hilbers | Juul T Wijnen | Nicoline Hoogerbrugge | Jan C Oosterwijk | Margriet J Collee | Paolo Peterlongo | Paolo Radice | Siranoush Manoukian | Irene Feroce | Fabio Capra | Fergus J Couch | Xianshu Wang | Lucia Guidugli | Kenneth Offit | Sohela Shah | Ian G Campbell | Ella R Thompson | Paul A James | Alison H Trainer | Javier Gracia | Javier Benitez | Christi J van Asperen | Peter Devilee

https://doi.org/10.1136/jmedgenet-2012-101191 Actions

Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion

JOURNAL ARTICLE published August 2020 in Journal of Medical Genetics

Authors: Xunde Wang | Julia Z Xu | Anna Conrey | Laurel Mendelsohn | Daniel Shriner | Mehdi Pirooznia | Swee Lay Thein

https://doi.org/10.1136/jmedgenet-2019-106698 Actions

Change in stage distribution observed with annual screening for ovarian cancer in BRCA carriers

JOURNAL ARTICLE published 1 June 2009 in Journal of Medical Genetics

Authors: R Manchanda | A Rosenthal | M Burnell | L Fraser | J Mackay | S Skates

https://doi.org/10.1136/jmg.2009.067462 Actions

ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity

JOURNAL ARTICLE published August 2022 in Journal of Medical Genetics

Authors: Simone Gana | Antonella Casella | Sara Cociglio | Elena Tartara | Elisa Rognone | Elisa Giorgio | Anna Pichiecchio | Simona Orcesi | Enza Maria Valente

https://doi.org/10.1136/jmedgenet-2021-107783 Actions

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

JOURNAL ARTICLE published February 2022 in Journal of Medical Genetics

Research funded by Barncancerfonden (PR2019-0027) | The Hållsten Research Foundation (2020) | Vetenskapsrådet (R01 2018-02652) | Berth von Kantzow’s foundation (2020) | Cancerfonden (K131519193) | Radiumhemmets Forskningsfonder (R01 141312)

Authors: Emeli Pontén | Sofia Frisk | Fulya Taylan | Raquel Vaz | Sandra Wessman | Leanne de Kock | Niklas Pal | William D Foulkes | Kristina Lagerstedt-Robinson | Ann Nordgren

https://doi.org/10.1136/jmedgenet-2020-107385 Actions

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

JOURNAL ARTICLE published 1 May 2009 in Journal of Medical Genetics

Authors: C Crimella | A Arnoldi | F Crippa | M L Mostacciuolo | F Boaretto | M Sironi | M G. D'Angelo | S Manzoni | L Piccinini | A C Turconi | A Toscano | O Musumeci | S Benedetti | R Fazio | N Bresolin | A Daga | A Martinuzzi | M T Bassi

https://doi.org/10.1136/jmg.2008.063321 Actions

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

JOURNAL ARTICLE published February 2022 in Journal of Medical Genetics

Authors: Alessandra Pennisi | Agnès Rötig | Charles-Joris Roux | Raphaël Lévy | Marco Henneke | Jutta Gärtner | Pelin Teke Kisa | Fatma Ceren Sarioglu | Uluç Yiş | Laura L Konczal | Deepika D Burkardt | Sulin Wu | Pauline Gaignard | Claude Besmond | Laurence Hubert | Marlène Rio | Giulia Barcia | Arnold Munnich | Nathalie Boddaert | Manuel Schiff

https://doi.org/10.1136/jmedgenet-2020-107367 Actions

Identifying novel oncogenic RET mutations and characterising their sensitivity to RET-specific inhibitors

JOURNAL ARTICLE published February 2021 in Journal of Medical Genetics

Authors: Zheng Zhao | Tao Fu | Jiyue Gao | Yang Xu | Xue Wu | Wenjuan Chen | Xuesong Li | Ruoying Yu | Yang Washington Shao | Man Li | Yu Yao

https://doi.org/10.1136/jmedgenet-2019-106546 Actions

Long-term tumour dormancy in aBRCA1heterozygote

JOURNAL ARTICLE published January 2023 in Journal of Medical Genetics

Research funded by Canadian Institutes of Health Research (FDN-148390)

Authors: Setor Amuzu | Lili Fu | Nadine Demko | Barbara Rivera | Celine Domecq | Leanne de Kock | Nancy Hamel | Lucy Gilbert | Paz Polak | Jiannis Ragoussis | William D Foulkes

https://doi.org/10.1136/jmedgenet-2021-108269 Actions

Correction

JOURNAL ARTICLE published December 2015 in Journal of Medical Genetics

https://doi.org/10.1136/jmg-2010-082552corr1 Actions

Accurate quantification of chromosomal lesions via short tandem repeat analysis using minimal amounts of DNA

JOURNAL ARTICLE published September 2017 in Journal of Medical Genetics

Authors: Johann-Christoph Jann | Daniel Nowak | Florian Nolte | Stephanie Fey | Verena Nowak | Julia Obländer | Jovita Pressler | Iris Palme | Christina Xanthopoulos | Alice Fabarius | Uwe Platzbecker | Aristoteles Giagounidis | Katharina Götze | Anne Letsch | Detlef Haase | Richard Schlenk | Gesine Bug | Michael Lübbert | Arnold Ganser | Ulrich Germing | Claudia Haferlach | Wolf-Karsten Hofmann | Maximilian Mossner

https://doi.org/10.1136/jmedgenet-2017-104528 Actions

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy

JOURNAL ARTICLE published April 2022 in Journal of Medical Genetics

Authors: Zhimei Liu | Li Zhang | Changhong Ren | Manting Xu | Shufang Li | Rui Ban | Ye Wu | Ling Chen | Suzhen Sun | Matthias Elstner | Masaru Shimura | Minako Ogawa-Tominaga | Kei Murayama | Tieliu Shi | Holger Prokisch | Fang Fang

https://doi.org/10.1136/jmedgenet-2020-107383 Actions
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