Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.
about
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadismGenomics and autism spectrum disorderDecreased bone mineral density in Prader-Willi syndrome: comparison with obese subjectsGenomic imprinting: review and relevance to human diseases.Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotypeOn the parental origin of de novo mutation in man.Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.Molecular and cytogenetic studies of the Prader-Willi syndrome.DNA methylation based testing of 450 patients suspected of having Prader-Willi syndromeA clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.The value of the study of natural history in genetic disorders and congenital anomaly syndromes.Microdeletion syndromes, balanced translocations, and gene mappingAlagille syndrome.Molecular screening for proximal 15q abnormalities in a mentally retarded population.Analysis of chromosome breakage in the Prader-Labhart-Willi syndrome.Blood specimens from patients referred for cytogenetic analysis: Vanderbilt University experience from 1985 to 1992.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Prader-Willi syndrome: current understanding of cause and diagnosis.Robinow syndrome: report of two patients and review of literature.An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.Genomics, intellectual disability, and autismThree probands with autistic disorder and isodicentric chromosome 15.Prader-Willi Syndrome: Obesity due to Genomic Imprinting.INTRAFAMILIAL AND MIDPARENTAL-CHILD CORRELATIONS AND HERITABILITY ESTIMATES OF ANTHROPOMETRIC MEASUREMENTS IN PRADER-WILLI SYNDROME FAMILIES.Growth standards of infants with Prader-Willi syndrome.Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes.Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.Parental origin of de novo constitutional deletions of chromosomal band 11p13Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.Hypopigmentation in the Prader-Willi syndromeMolecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.Isolation and analysis of DNA markers specific to human chromosome 15.On the origin of chromosome anomaly.Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q.The genetics of microdeletion and microduplication syndromes: an update.Angelman syndrome: clinical profile.Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient miceClinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes
P2860
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P2860
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.
description
1986 nî lūn-bûn
@nan
1986 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1986 թվականի մարտին հրատարակված գիտական հոդված
@hy
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
name
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.
@ast
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.
@en
type
label
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.
@ast
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.
@en
prefLabel
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.
@ast
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.
@en
P2093
P2860
P356
P1476
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.
@en
P2093
C G Palmer
F J Meaney
M G Butler
P2860
P304
P356
10.1002/AJMG.1320230307
P407
P577
1986-03-01T00:00:00Z