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Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms

Alla Lyfenko , Sylvie Ducreux , Ying Wang , Le Xu , Francesco Zorzato , et al.
Human Mutation, 2007, 28 (1), pp.61-68. ⟨10.1002/humu.20409⟩
Article dans une revue hal-03884534v1

Structural and functional analysis of a new desmin variant causing desmin-related myopathy

Bertrand Goudeau , Ayush Dagvadorj , Fernando Rodrigues-Lima , Patrick Nédellec , Monique Casteras-Simon , et al.
Human Mutation, 2001, 18 (5), pp.388-396. ⟨10.1002/humu.1210⟩
Article dans une revue istex hal-03029541v1

Two intronic mutations in the adrenoleukodystrophy gene

Stephan Kemp , Marjolijn Ligtenberg , Björn van Geel , Peter Barth , Claude-Olivier Sarde , et al.
Human Mutation, 1995, 6 (3), pp.272-273. ⟨10.1002/humu.1380060316⟩
Article dans une revue hal-03967584v1

Mutational analysis of patients with X-linked adrenoleukodystrophy

Fernando Kok , Sylvia Neumann , Claude-Olivier Sarde , Siqun Zheng , Kuei-Hua Wu , et al.
Human Mutation, 1995, 6 (2), pp.104-115. ⟨10.1002/humu.1380060203⟩
Article dans une revue hal-03967962v1

Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients

Ryoko Koike , Osamu Onodera , Hiroyuki Tabe , Kiyotoshi Kaneko , Tadashi Miyatake , et al.
Human Mutation, 1995, 6 (3), pp.263-267. ⟨10.1002/humu.1380060314⟩
Article dans une revue hal-03967905v1

A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis

M Lévy , Rafaëlle Bernard-Bronsard , M Lossi , Laurence Colleaux , Carlos Cardoso , et al.
Article dans une revue istex hal-02128934v1

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

Olivier Baris , Cécile Delettre , Patrizia Amati-Bonneau , Marie-Odile Surget , Jean-François Charlin , et al.
Human Mutation, 2003, 21 (6), pp.656-656. ⟨10.1002/humu.9152⟩
Article dans une revue hal-03771605v1

The Infevers auto-inflammatory mutation online registry: the 2007 update with new genes and functions

F. Milhavet , L. Cuisset , H. Hoffman , R. Slim , H. El-Shanti , et al.
Human Mutation, 2008, 29 (6), pp.803-808. ⟨10.1002/humu.20720⟩
Article dans une revue hal-00287920v1

Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy

Anna Buj-Bello , Valérie Biancalana , Céline Moutou , Jocelyn Laporte , Jean-Louis Mandel
Article dans une revue istex hal-03157883v1

The UMD TP53 database and website: update and revisions.

D. Hamroun , S. Kato , C. Ishioka , M. Claustres , Christophe Béroud , et al.
Human Mutation, 2006, 27, pp.14-20. ⟨10.1002/humu.20269⟩
Article dans une revue istex hal-00113408v1
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Verification of the Three Step Model in Assessing the Pathogenicity of Mismatch Repair Gene Variants

Minttu Kansikas , Reetta Kariola , Minna Nystrom
Human Mutation, 2010, 32 (1), pp.107. ⟨10.1002/humu.21409⟩
Article dans une revue hal-00602305v1

MTM1 mutations in X-linked myotubular myopathy

Jocelyn Laporte , Valérie Biancalana , Stephan Tanner , Wolfram Kress , Vreni Schneider , et al.
Article dans une revue istex hal-03156248v1

Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

Daniela Di Giacomo , Pascaline Gaildrat , Anna Abuli , Julie Abdat , Thierry Frebourg , et al.
Human Mutation, 2013, 34 (11), pp.1547-1557. ⟨10.1002/humu.22428⟩
Article dans une revue istex hal-02336301v1

NovelJARID1C/SMCX mutations in patients with X-linked mental retardation

Andreas Tzschach , Steffen Lenzner , Bettina Moser , Richard Reinhardt , Jamel Chelly , et al.
Human Mutation, 2006, 27 (4), pp.389-389. ⟨10.1002/humu.9420⟩
Article dans une revue istex hal-04109796v1

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method

Yoann Saillour , Mireille Cossée , France Leturcq , Aurélie Vasson , Caroline Beugnet , et al.
Human Mutation, 2008, 29 (9), pp.1083-1090. ⟨10.1002/humu.20829⟩
Article dans une revue istex hal-04109866v1
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Novel genomic techniques in the analysis of monogenic disorders

Gregor Kuhlenbäumer , Julia Hullmann , Silke Appenzeller
Human Mutation, 2011, 32 (2), pp.144. ⟨10.1002/humu.21400⟩
Article dans une revue istex hal-00612008v1

Unilateral Cryptorchidism in Mice Mutant for Ptgds

P. Philibert , B. Boizet-Bonhoure , A. Basmaboo , F. Paris , K. Aritake , et al.
Human Mutation, 2013, 34 (2), pp.278-282. ⟨10.1002/humu.22231⟩
Article dans une revue hal-00783212v1
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Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: Further support for a unique European ancestral mutation

N. Loux , B. Saint-Jore , Gwenaelle Collod , P. Benlian , J. P. Cambou , et al.
Human Mutation, 1993, 2 (2), pp.145 - 147. ⟨10.1002/humu.1380020216⟩
Article dans une revue istex hal-01662690v1
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THE EXPANDING UNIVERSE OF COHESIN FUNCTIONS: A NEW GENOME STABILITY CARETAKER INVOLVED IN HUMAN DISEASE AND CANCER.

Linda Mannini , Stefania Menga , Antonio Musio
Human Mutation, 2010, 31 (6), pp.623. ⟨10.1002/humu.21252⟩
Article dans une revue hal-00552379v1
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Massive parallel amplicon sequencing of the breast cancer genes BRCA1&2 : opportunities, challenges and limitations.

Kim de Leeneer , Jan Hellemans , Joachim de Schrijver , Machteld Baetens , Bruce Poppe , et al.
Human Mutation, 2011, 32 (3), pp.335. ⟨10.1002/humu.21428⟩
Article dans une revue istex hal-00613912v1
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Transcriptional and translational effects of intronic CAPN3 gene mutations

Anna Chiara Nascimbeni , Marina Fanin , Elisabetta Tasca , Corrado Angelini
Human Mutation, 2010, 31 (9), ⟨10.1002/humu.21320⟩
Article dans une revue hal-00613752v1

MTM1 mutations in X-linked myotubular myopathy

Jocelyn Laporte , Stephan Tanner , Wolfram Kress , Vreni Schneider , Carina Wallgren-Pettersson , et al.
Article dans une revue istex hal-04481821v1

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A ( TUBA1A )

Karine Poirier , David Keays , Fiona Francis , Yoann Saillour , Nadia Bahi , et al.
Human Mutation, 2007, 28 (11), pp.1055-1064. ⟨10.1002/humu.20572⟩
Article dans une revue hal-04106399v1
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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7 and LRRK2 genes: a mutation update

Karen Nuytemans , Jessie Theuns , Marc Cruts , Christine van Broeckhoven
Human Mutation, 2010, 31 (7), pp.763. ⟨10.1002/humu.21277⟩
Article dans une revue hal-00552395v1
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Performance of Protein Stability Predictors

Sofia Khan , Mauno A Vihinen
Human Mutation, 2010, 1 (1), pp.675. ⟨10.1002/humu.21242⟩
Article dans une revue hal-00552374v1

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

Stephan Kemp , Aurora Pujol , Hans Waterham , Corinne Boehm , Gerald Raymond , et al.
Human Mutation, 2001, 18 (6), pp.499-515. ⟨10.1002/humu.1227⟩
Article dans une revue hal-04093348v1
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CEP290, a gene with many faces: mutation overview and presentation of CEP290base

Frauke Coppieters , Steve Lefever , Bart P. Leroy , Elfride Bw de Baere
Human Mutation, 2010, 31 (10), pp.1097. ⟨10.1002/humu.21337⟩
Article dans une revue hal-00563445v1
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Databases in the area of Pharmacogenetics

Sarah C Sim , Russ B Altman , Magnus Ingelman-Sundberg
Human Mutation, 2011, 32 (5), pp.526. ⟨10.1002/humu.21454⟩
Article dans une revue hal-00629068v1
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miRNA GENES AND THE BRAIN: IMPLICATIONS FOR PSYCHIATRIC DISORDERS

Diego Forero , Karlijn van Der Ven , Patrick Callaerts , Jurgen Del-Favero
Human Mutation, 2010, 31 (11), pp.1195. ⟨10.1002/humu.21344⟩
Article dans une revue istex hal-00585780v1

The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency

Emmanuelle Masson , Claude Férec , Jian-Min Chen
Human Mutation, 2021, 42 (2), pp.216-217. ⟨10.1002/humu.24153⟩
Article dans une revue hal-03617789v1