Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.
about
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qterGDF6, a novel locus for a spectrum of ocular developmental anomaliesRare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and ManagementMdm38 interacts with ribosomes and is a component of the mitochondrial protein export machinery.The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome.Novel components of an active mitochondrial K(+)/H(+) exchange.Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migrationSystematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndromeThe Carboxy-Terminal Modulator Protein (CTMP) regulates mitochondrial dynamicsFrom microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.Wolf-Hirschhorn syndrome: A review and update.Clinical utility gene card for: Wolf-Hirschhorn (4p-) syndrome.Phenotypic variations in wolf-hirschhorn syndromeDiverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiencyOcular coloboma: a reassessment in the age of molecular neuroscience.Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentationsPrenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literatureGenotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case ReportsAnalyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic HybridizationChromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.Trypanosome Letm1 protein is essential for mitochondrial potassium homeostasis.High expression of leucine zipper-EF-hand containing transmembrane protein 1 predicts poor prognosis in head and neck squamous cell carcinoma.Perspectives on: SGP symposium on mitochondrial physiology and medicine: the pathophysiology of LETM1.Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition.Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.Wolf-Hirschhorn (4p-) syndrome with West syndrome.Extremely low birthweight infant with wolf-hirschhorn syndrome: a dilemma in determination of the optimal timing of delivery.Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development.Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype.A genotype-phenotype correlation study reveals that a non-coding RNA might be associated with cardiovascular anomalies in fetuses with WHS.
P2860
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P2860
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.
description
2003 nî lūn-bûn
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2003 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Mapping the Wolf-Hirschhorn sy ...... a new critical region, WHSCR-2
@nl
Mapping the Wolf-Hirschhorn sy ...... new critical region, WHSCR-2.
@ast
Mapping the Wolf-Hirschhorn sy ...... new critical region, WHSCR-2.
@en
Mapping the Wolf-Hirschhorn sy ...... new critical region, WHSCR-2.
@en-gb
type
label
Mapping the Wolf-Hirschhorn sy ...... a new critical region, WHSCR-2
@nl
Mapping the Wolf-Hirschhorn sy ...... new critical region, WHSCR-2.
@ast
Mapping the Wolf-Hirschhorn sy ...... new critical region, WHSCR-2.
@en
Mapping the Wolf-Hirschhorn sy ...... new critical region, WHSCR-2.
@en-gb
prefLabel
Mapping the Wolf-Hirschhorn sy ...... a new critical region, WHSCR-2
@nl
Mapping the Wolf-Hirschhorn sy ...... new critical region, WHSCR-2.
@ast
Mapping the Wolf-Hirschhorn sy ...... new critical region, WHSCR-2.
@en
Mapping the Wolf-Hirschhorn sy ...... new critical region, WHSCR-2.
@en-gb
P2093
P2860
P3181
P356
P1476
Mapping the Wolf-Hirschhorn sy ...... new critical region, WHSCR-2.
@en
P2093
Angelo Selicorni
Cinzia Buttè
Francesca Faravelli
Giovanni Neri
Giuseppe Capovilla
Luigi Memo
Marcella Zollino
Marina Murdolo
Rita Fischetto
Rosetta Lecce
P2860
P304
P3181
P356
10.1086/367925
P407
P577
2003-01-30T00:00:00Z