Recent Publications on Microcephaly: |  |
Impaired neurogenesis in embryonic spinal cord of Phgdh knockout mice: A serine deficiency disorder model.
Mutations in the d-3-phosphoglycerate dehydrogenase (PHGDH; EC 1.1.1.95)...
Direct Link | 31st December, 2008
| Laboratory of Metabolic Regulation Research, Kyushu University
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Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development.
GTF2I and GTF2IRD1 encoding the multifunctional transcription factors...
Direct Link | 26th December, 2008
| Department of Reconstructive Sciences, University of Connecticut Health
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[Cerebromediastinal tuberculosis in a child with a probable Say-Barber-Miller syndrome: A causative link?]
INTRODUCTION: Tuberculosis continues to be a public health problem in...
Direct Link | 26th December, 2008
| Service de neurologie pediatrique, institut national de neurologie, 1007
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| General anesthesia for a patient with deletion 6q syndrome in addition to laryngomalacia undergoing dental treatment.
| 25th December, 2008
| Department of Dental Anesthesiology, School of Dental Medicine, Tsurumi
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De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array -CGH.
ABSTRACT: BACKGROUND: In routine Assisted Reproductive Technology (ART)...
Direct Link | 25th December, 2008
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Fertility defects revealing germline biallelic nonsense NBN mutations.
Biallelic mutations in the NBN/NBS1 gene are the cause of Nijmegen...
Direct Link | 24th December, 2008
| Institut Curie, Centre de Recherche, Paris, France.
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The Fanconi anemia/BRCA gene network in zebrafish: Embryonic expression and comparative genomics.
Fanconi anemia (FA) is a genic disease resulting in bone marrow failure,...
Direct Link | 23rd December, 2008
| Institute of Neuroscience, University of Oregon, 1425 E. 13th Avenue,
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| De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.
| 18th December, 2008
| Department of Human Genetics, NYS Institute for Basic Research, in
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Radiation biology for pediatric radiologists.
The biological effects of radiation result primarily from damage to DNA....
Direct Link | 17th December, 2008
| Columbia University Medical Center, 630 W. 168th St., New York, NY, 10032,
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Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature.
Abstract Background: The rare congenital combination of microcephaly,...
Direct Link | 17th December, 2008
| Department of Neonatology, Kaplan Medical Center, Rehovot and Hebrew
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Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
BACKGROUND: Periventricular heterotopia (PH) is an etiologically...
Direct Link | 17th December, 2008
| From INSERM U901 (C.C., S.K.), INMED, University de la Mediterranee,
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Hypotonia, weakness, and pontocerebellar hypoplasia in siblings.
A 6-week-old girl presenting with severe weakness, hypotonia,...
Direct Link | 17th December, 2008
| Department of Pediatrics and Neurology, The Ohio State University,
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Neonatal manifestation of multiple sulfatase deficiency.
INTRODUCTION: Multiple sulfatase deficiency is biochemically characterized...
Direct Link | 11th December, 2008
| Institute of Medical Genetics, Charite-Universitatsmedizin Berlin,
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Size, shape, and asymmetry in fossil hominins: The status of the LB1 cranium based on 3D morphometric analyses.
The unique set of morphological characteristics of the Liang Bua hominins...
Direct Link | 9th December, 2008
| Department of Anatomical Sciences, Stony Brook University Medical Center,
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| Neu-Laxova syndrome in an appropriate for gestational age newborn.
| 5th December, 2008
| Department of Pediatrics, Ministry of Health Ankara Training and Research
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