Recent Publications on De Lange Syndrome: |  |
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance Am J Med Genet Part A 143A:1287-1296.
Deoxycytidylate deaminase, catalyzing the conversion of dCMP to dUMP, is...
Direct Link | 26th September, 2008
| Harvey Institute for Human, Genetics, Department of Pediatrics, Greater
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Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.
Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital...
Direct Link | 19th September, 2008
| Division of Medical Genetics, San Paolo School of Medicine, University of
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Cohesin and Human Disease.
Cornelia de Lange syndrome (CdLS) is a dominant multisystem disorder...
Direct Link | 5th September, 2008
| 1Division of Human Genetics, The Children's Hospital of Philadelphia and
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CTCF physically links cohesin to chromatin.
Cohesin is required to prevent premature dissociation of sister chromatids...
Direct Link | 19th July, 2008
| Department of Radiation Oncology, University of Washington School of
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Health and sleep problems in Cornelia de Lange Syndrome: a case control study.
BACKGROUND: Self-injury, sleep problems and health problems are commonly...
Direct Link | 2nd July, 2008
| Department of Psychiatry and Behavioral Science, Stanford University,
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Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes.
Autism spectrum disorder characteristics have not been evaluated in...
Direct Link | 21st June, 2008
| University of Birmingham, UK.
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Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome.
Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism;...
Direct Link | 17th June, 2008
| Genetic Services of Western Australia, Princess Margaret Hospital for
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Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome.
The cohesin complex is a chromosomal component required for sister...
Direct Link | 1st May, 2008
| Edward A. Doisy Department of Biochemistry and Molecular Biology, Saint
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Temporal bone CT findings in Cornelia de Lange syndrome.
BACKGROUND AND PURPOSE: Cornelia de Lange syndrome is a rare developmental...
Direct Link | 24th April, 2008
| Department of Radiology, Research Institute of Radiological Science,
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Facial expression of affect in children with Cornelia de Lange syndrome.
BACKGROUND: Individuals with Cornelia de Lange syndrome (CdLS) have been...
Direct Link | 4th April, 2008
| School of Psychology, University of Birmingham, Birmingham, UK.
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Cohesin mediates transcriptional insulation by CCCTC-binding factor.
Cohesin complexes mediate sister-chromatid cohesion in dividing cells but...
Direct Link | 20th March, 2008
| Research Institute of Molecular Pathology, Dr. Bohr Gasse 7, 1030 Vienna,
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Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome.
The development of children who have syndromes with mental retardation...
Direct Link | 14th March, 2008
| Institute of Pediatrics, University of Milan, Fondazione IRCCS Ospedale
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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
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Unique occurrence of Brachmann-de Lange syndrome in a fetus whose mother presented with a diffuse large B-cell lymphoma.
Brachmann-De Lange Syndrome (BDLS, MIM 122470) is a rare multiple...
Direct Link | 20th February, 2008
| Central Institute of Mental Health, Department of Child and Adolescent
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Descriptive epidemiology of Cornelia de Lange syndrome in Europe.
Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental...
Direct Link | 9th January, 2008
| Children's University Hospital Zagreb, Zagreb, Croatia.
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