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Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta
- Julie Rousseau
- , Roberta Gioia
- & Antonella Forlino
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A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis
- Elyssia Bourke
- , Pamela Snow
- & Sylvia Metcalfe
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A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution
- Robert W Davies
- , Paulina Lau
- & Ruth McPherson
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Article
| Open AccessEvidence for anticipation in Beckwith–Wiedemann syndrome
- Siren Berland
- , Mia Appelbäck
- & Gunnar Houge
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Positive selection of protective variants for type 2 diabetes from the Neolithic onward: a case study in Central Asia
- Laure Ségurel
- , Frederic Austerlitz
- & Evelyne Heyer
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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
- Camille Leroy
- , Emilie Landais
- & Martine Doco-Fenzy
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Clinical Utility Gene Card |
Clinical utility gene card for: osteogenesis imperfecta
- Fleur S van Dijk
- , Raymond Dalgleish
- & Gerard Pals
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Clinical Utility Gene Card |
Clinical utility gene card for: Pseudohypoparathyroidism
- Giovanna Mantovani
- , Agnes Linglart
- & Guiomar Perez de Nanclares
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A novel missense mutation in the signal peptide of the human POMC gene: a possible additional link between early-onset type 2 diabetes and obesity
- Monica Mencarelli
- , Alessandra Zulian
- & Cecilia Invitti
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Short Report
| Open AccessHaploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity
- Christina Halgren
- , Iben Bache
- & Niels Tommerup
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Short Report |
Lactose malabsorption is a risk factor for decreased bone mineral density in pancreatic insufficient cystic fibrosis patients
- Edyta Mądry
- , Beata Krasińska
- & Jarosław Walkowiak
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Clinical Utility Gene Card |
Clinical utility gene card for: Abetalipoproteinaemia
- John R Burnett
- , Damon A Bell
- & Robert A Hegele
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Short Report |
1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data
- Jie Huang
- , David Ellinghaus
- & Yun Li
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Improved access to life insurance after genetic diagnosis of familial hypercholesterolaemia: cross-sectional postal questionnaire study
- Roeland Huijgen
- , Sietske JM Homsma
- & Jan LA van Rijckevorsel
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Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures
- Niklas R Jørgensen
- , Lise B Husted
- & James S Wiley
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| Open AccessPolymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal women
- Alison Gartland
- , Kristen K Skarratt
- & James S Wiley
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Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia
- Verónica Barca-Tierno
- , Miriam Aza-Carmona
- & Karen E Heath
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
- Sarah Vergult
- , Danijela Krgovic
- & Björn Menten
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Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)
- C M Laine
- , B D Chung
- & O Mäkitie
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Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender
- Hyunju Ryoo
- , Jiyoung Woo
- & Chaeyoung Lee
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Clinical Utility Gene Card |
Clinical utility gene card for: Silver–Russell syndrome
- Thomas Eggermann
- , Karin Buiting
- & I Karen Temple
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NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease
- Saskia J G Hoefs
- , Francjan J van Spronsen
- & Lambert P van den Heuvel
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Replication of genetic variants from genome-wide association studies with metabolic traits in an island population of the Adriatic coast of Croatia
- Rebekah Karns
- , Ge Zhang
- & Ranjan Deka
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FTO genotype and adiposity in children: physical activity levels influence the effect of the risk genotype in adolescent males
- Robert A Scott
- , Mark E S Bailey
- & Yannis P Pitsiladis
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Letter |
Lack of association between a new tag SNP in the FTO gene and BMI in Czech–Slavonic population
- Dana Dlouha
- , Vera Adamkova
- & Jaroslav A Hubacek
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A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese
- Chao Qiang Jiang
- , Bin Liu
- & G Neil Thomas
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Short Report |
The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels
- Tea Berulava
- & Bernhard Horsthemke
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Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
- Claire Louise Susan Turner
- , Deborah M Mackay
- & I Karen Temple
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Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis
- Antonio Alcina
- , Óscar Fernández
- & Fuencisla Matesanz
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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