Recent Publications on Wolf-Hirschhorn Syndrome: |  |
Screening of Subtelomeric Rearrangements in 100 Korean Pediatric Patients with Unexplained Mental Retardation and Anomalies Using Subtelomeric FISH (Fluorescence In Situ Hybridization).
Rearrangements of the subtelomeric regions of chromosomes account for a...
Direct Link | 30th August, 2008
| Department of Laboratory Medicine & Genetics, Samsung Medical Center,
|
Familial interstitial deletion of the short arm of chromosome 4 (p15.33-p16.3) characterized by molecular cytogenetic analysis.
This 15-month boy was expressed at the cytogenetic laboratory because of...
Direct Link | 9th August, 2008
| Service de Cytogenetique, Cytologie et Biologie de Reproduction, CHU
|
The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome.
Rearrangements of the subtelomeric regions of chromosomes account for a...
Direct Link | 5th August, 2008
|
|
Wolf-Hirschhorn syndrome.
Chromosomal abnormalities are important cause of mental retardation and...
Direct Link | 2nd August, 2008
| Department of Nephrology, The Children's Hospital and Institute of Child
|
Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.
LETM1 is located in the chromosomal region that is deleted in patients...
Direct Link | 17th July, 2008
| Department of Molecular Biology, Graduate School of Medical Science,
|
| Bilateral microphthalmia with orbital cysts in Wolf-Hirschhorn syndrome.
| 9th July, 2008
|
|
Identification of a novel proliferation-related protein, WHSC1 4a, in human gliomas.
Dynamic changes in the expression of multiple genes appear to be common...
Direct Link | 22nd May, 2008
| Surgical Neurology Branch, National Institute of Neurological Disorders
|
Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-->pter) and partial trisomy 10q (10q25.1-->qter).
Chromosomal abnormalities are important cause of mental retardation and...
Direct Link | 9th April, 2008
|
|
| The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random.
| 3rd April, 2008
| Centre for Human-Genetics, University Hospital, Catholic University of
|
| Translocation form of Wolf-Hirschhorn syndrome --assessment of recurrence rate probability.
| 5th March, 2008
| Department of Clinical Genetics, Medical University of Bialystok, Poland.
|
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
Wolf-Hirschhorn syndrome (WHS) is a complex congenital syndrome caused by...
Direct Link | 1st March, 2008
| Venetian Institute of Molecular Medicine, 35129 Padova, Italy.
|
Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome.
We report on the clinical phenotype of an infant with a duplication of the...
Direct Link | 26th February, 2008
| Genetic & Genomic Sciences, Mount Sinai Medical Center, New York, New York
|
Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.
In this study, we present a 38-year-old woman with an interstitial...
Direct Link | 23rd January, 2008
| Department of Neurology, Danish Epilepsy Centre, Dianalund, Denmark.
|
Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome.
Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome...
Direct Link | 9th January, 2008
| Max Planck Institute for Molecular Genetics, Berlin, Germany.
|
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.
BACKGROUND: Recently the genotype/phenotype map of Wolf-Hirschhorn...
Direct Link | 24th October, 2007
|
|
