7 Result(s)
within
Alice Goldenberg
Human Genetics
-
Article
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
Exome sequencing (ES) has become the method of choice for diagnosing rare diseases, while the availability of short-read genome sequencing (SR-GS) in a medical setting is increasing. In addition, new sequencin...
-
Article
Open AccessExpanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by u...
-
Article
Open AccessNatural history of Barth syndrome: a national cohort study of 22 patients
This study describes the natural history of Barth syndrome (BTHS).
-
Article
Open AccessScreening for primary creatine deficiencies in French patients with unexplained neurological symptoms
A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD). Urine guanidinoacetate (GAA) ...
-
Article
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
Josseline Kaplan, Jean-Michel Rozet and colleagues show that biallelic mutations in NMNAT1 cause an autosomal recessive form of Leber congenital amaurosis characterized by early-onset severe macular atrophy and o...
-
Article
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
Andrea Ventura and colleagues report germline hemizygous deletions in the miR-17~92 cluster in individuals with features overlap** Feingold syndrome. Mice with targeted deletions in miR17~92 also display gro...
-
Article
Genoty** microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome
Complex I deficiency, the most common cause of mitochondrial disorders, accounts for a variety of clinical symptoms and its genetic heterogeneity makes identification of the disease genes particularly tedious....
