Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.
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Application of array-based comparative genomic hybridization to clinical diagnosticsClinical implementation of comprehensive strategies to characterize cancer genomes: opportunities and challengesDeletions 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 syndromePrenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH.Genetic aspects of human congenital diaphragmatic hernia.Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.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.Disorders caused by chromosome abnormalities.Frequent loss of genome gap region in 4p16.3 subtelomere in early-onset type 2 diabetes mellitus.Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiencyComplex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.Chromosome analysis: what and when to requestFine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.Genetic factors in congenital diaphragmatic hernia.Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.Array-based comparative genomic hybridization in clinical diagnosis.Identification of disease genes by whole genome CGH arrays.Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case ReportsAutosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.Fluorescence in situ hybridization techniques in medical diagnostics.Direct fluorescent labelling of clones by DOP PCRUnusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.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.Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia.Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.Clinical array comparative genomic hybridization: a new paradigm.Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy.Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
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P2860
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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name
Mild Wolf-Hirschhorn syndrome: ...... of the genotype-phenotype map.
@en
Mild Wolf-Hirschhorn syndrome: ...... of the genotype-phenotype map.
@nl
type
label
Mild Wolf-Hirschhorn syndrome: ...... of the genotype-phenotype map.
@en
Mild Wolf-Hirschhorn syndrome: ...... of the genotype-phenotype map.
@nl
prefLabel
Mild Wolf-Hirschhorn syndrome: ...... of the genotype-phenotype map.
@en
Mild Wolf-Hirschhorn syndrome: ...... of the genotype-phenotype map.
@nl
P2093
P356
P1476
Mild Wolf-Hirschhorn syndrome: ...... of the genotype-phenotype map.
@en
P2093
Devriendt K
Matthijs G
Van Buggenhout G
Van Hummelen P
Vermeesch JR
P304
P356
10.1136/JMG.2003.016865
P407
P577
2004-09-01T00:00:00Z