Latest papers

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation

Familial clustering of hemangiomas.

Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

VPS35 Mutations in Parkinson Disease

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

Xanthine urolithiasis in a Cavalier King Charles spaniel. AD - Division of Veterinary Clinical Sciences, Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush Veterinary Centre, Roslin, Midlothian EH25 9RG. adam.gow@ed.ac.uk FAU - Gow, A G AU - Gow AG FAU - Fairbanks, L D AU - Fairbanks LD FAU - Simpson, J W AU - Simpson JW FAU - Jacinto, A M L AU - Jacinto AM FAU - Ridyard, A E AU - Ridyard AE LA - eng PT - Case Reports PT - Journal Article DEP - 20110708 PL - England TA - Vet Rec JT - The Veterinary record JID - 0031164 RN - 69-89-6 (Xanthine) SB - IM MHDA- 2011/11/04 06:00 PHST- 2011/07/08 [aheadofprint] AID - vr.d3932 [pii] AID - 10.1136/vr.d3932 [doi] PST - ppublish SO - Vet Rec. 2011 Aug 20;169(8):209. Epub 2011 Jul 8.

Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth

TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.

Indian Siddis: African Descendants with Indian Admixture

A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans

Mutations in Frizzled 6 Cause Isolated Autosomal-Recessive Nail Dysplasia

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.