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| Open AccessMitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny
- Michael V Zaragoza
- , Martin C Brandon
- & Douglas C Wallace
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Article |
Estimating penetrance from multiple case families with predisposing mutations: extension of the ‘genotype-restricted likelihood’ (GRL) method
- Bernard Bonaïti
- , Valérie Bonadona
- & Catherine Bonaïti-Pellié
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Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients
- Ans M W van den Ouweland
- , Peter Elfferich
- & Dicky J J Halley
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Article |
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
- Francesca I Arrigoni
- , Mar Matarin
- & Sanjay M Sisodiya
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Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients
- Mohammad Shahid
- , Varinderpal S Dhillon
- & Syed Akhtar Husain
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Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
- Siddharth Banka
- , Elena Chervinsky
- & Stavit Shalev
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Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)
- Hanna Västinsalo
- , Reetta Jalkanen
- & Eeva-Marja Sankila
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p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study
- Céline René
- , Damien Paulet
- & Marie des Georges
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Short Report |
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
- Kimia Kahrizi
- , Cougar Hao Hu
- & Andreas Tzschach
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Short Report |
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency
- Judit García-Villoria
- , Laura Gort
- & Antonia Ribes
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Review |
Genetic male infertility and mutation of CATSPER ion channels
- Michael S Hildebrand
- , Matthew R Avenarius
- & Richard J H Smith
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Article |
The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions
- Lina Keller
- , Hedvig Welander
- & Caroline Graff
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Article |
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency
- Christopher W Carr
- , Daniel Moreno-De-Luca
- & Omar A Abdul-Rahman
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Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome
- Kim M Summers
- , Sobia Raza
- & David A Hume
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CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592
- Elsa Nicolas
- , Yannick Poitelon
- & Valérie Delague
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The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
- Aimée DC Paulussen
- , Constance T Schrander-Stumpel
- & Jos Herbergs
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A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis
- Sibel A Ugur Iseri
- , Yusuf K Durlu
- & Aslihan Tolun
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Letter |
Therapeutic exon ‘switching’ for dysferlinopathies?
- Nicolas Lévy
- , Nicolas Wein
- & Marc Bartoli
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New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish
- Deborah J Morris-Rosendahl
- , Reeval Segel
- & Fran Faes
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Short Report |
Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies
- Alix de Becdelièvre
- , Catherine Costa
- & Emmanuelle Girodon
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Article |
Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population
- Zhu Sheng-Yuan
- , Fu Xiong
- & Xiang-Min Xu
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Article |
Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction
- Simone Diekmann
- , Marco Henneke
- & Jutta Gärtner
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Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency
- Marjolijn Renard
- , Tammy Holm
- & Bart L Loeys
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Short Report |
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation
- Ulf Edener
- , Janine Wöllner
- & Christine Zühlke
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Usefulness of factor V Leiden mutation testing in clinical practice
- Ellen Ø Blinkenberg
- , Ann-Helen Kristoffersen
- & Gunnar Houge
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The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy
- Marzia De Bortoli
- , Giorgia Beffagna
- & Alessandra Rampazzo
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Article
| Open AccessLTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma
- Julie Désir
- , Yves Sznajer
- & Marc Abramowicz
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Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
- Kristien P Hoornaert
- , Inge Vereecke
- & Geert R Mortier
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The USH2A c.2299delG mutation: dating its common origin in a Southern European population
- Elena Aller
- , Lise Larrieu
- & José M Millán
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
- Cristina Gervasini
- , Federica Mottadelli
- & Lidia Larizza
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Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis
- Duncan B Sparrow
- , David Sillence
- & Sally L Dunwoodie
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Genotype–phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I
- Frank Rauch
- , Liljana Lalic
- & Francis H Glorieux
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An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance
- Amla Kuechler
- , Berthold P Hauffa
- & Jörg Gromoll
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Short Report |
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS
- Muhammad Farooq
- , Jesper T Troelsen
- & Klaus W Kjaer