The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies.
about
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other lociA fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort studyNew criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population surveyUpdate on the genetics of bardet-biedl syndromeBardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementHomozygosity mapping at Alström syndrome to chromosome 2pAlstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunctionHistopathology of mitochondrial cytopathy and the Laurence-Moon-Biedl syndromeGenetics of the female reproductive ducts.Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromesPitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.Bardet-Biedl syndrome: A rare cause of end stage renal diseaseA case of McKusick-Kaufman syndrome.Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genesPrevalence of Bardet-Biedl syndrome in Tunisia.Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndromeMutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.Functional modelling of a novel mutation in BBS5.Skin manifestations of Bardet-Biedl syndrome.Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl familyLAURENCE-MOON-BARDET-BIEDL SYNDROME - PRESENTING WITH ACUTE ONSET OF DIABETES MELLITUS.Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome.Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome.Laurence-Moon-Biedl syndrome accompanied by congenital hepatic fibrosis.Sex chromosome aneuploidy and Bardet-Biedl syndrome.Seven hereditary syndromes with pigmentary retinopathy. A review and differential diagnosis.The Laurence-Moon-Biedl syndrome. Six cases of obesity, short stature, mental retardation, small genitalia, and retinitis pigmentosa.Bardet-Biedl Syndrome with End Stage Renal Disease.Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes.Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.Triallelic inheritance: a bridge between Mendelian and multifactorial traits.Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.Reply to leder and hodge.
P2860
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P2860
The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies.
description
1969 nî lūn-bûn
@nan
1969年の論文
@ja
1969年論文
@yue
1969年論文
@zh-hant
1969年論文
@zh-hk
1969年論文
@zh-mo
1969年論文
@zh-tw
1969年论文
@wuu
1969年论文
@zh
1969年论文
@zh-cn
name
The syndrome of Laurence-Moon- ...... c and epidemiological studies.
@en
type
label
The syndrome of Laurence-Moon- ...... c and epidemiological studies.
@en
prefLabel
The syndrome of Laurence-Moon- ...... c and epidemiological studies.
@en
P1476
The syndrome of Laurence-Moon- ...... c and epidemiological studies.
@en
P2093
P304
P356
10.1016/0022-510X(69)90091-4
P577
1969-11-01T00:00:00Z