Neurodevelopmental and neuroimaging correlates in nonsyndromal microcephalic children.

Autor: CUSTER, DEBORAH A., VEZINA, GILBERT L., VAUGHT, DONNA R., BRASSEUX, CYNTHIA, SAMANGO-SPROUSE, CAROLE A., COHEN, MIRIAM S., ROSENBAUM, KENNETH N., Custer, D A, Vezina, L G, Vaught, D R, Brasseux, C, Samango-Sprouse, C A, Cohen, M S, Rosenbaum, K N

Publikováno v: Journal of Developmental & Behavioral Pediatrics; Feb2000, Vol. 21 Issue 1, p12-18, 7p

Selection against lethal alleles in females heterozygous for incontinentia pigmenti

Autor: Migeon, B R, Axelman, J, Jan de Beur, S, Valle, D, Mitchell, G A, Rosenbaum, K N

Studies of five heterozygous females from three kindreds segregating incontinentia pigmenti indicate that cells expressing the mutation have been eliminated from skin fibroblast cultures and in varying degrees from hematopoietic tissues. Clonal analy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d5ea74bec277a0bd3accde4e982e8c88
https://europepmc.org/articles/PMC1715454/

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.

Autor: Rosenberg MJ; National Human Genome Research Institute, Genetic Disease Research Branch, 49 Convent Drive, Bethesda, MD 20892, USA. marjr@nhgri.nih.gov, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM Jr, Grix A, Guttmacher AE, Hudgins L, Kozma C, Michaelis RC, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG

Publikováno v: Human genetics [Hum Genet] 2001 Sep; Vol. 109 (3), pp. 311-8.

Otologic manifestations of Wolf-Hirschhorn syndrome.

Autor: Lesperance MM; Department of Pediatric Otolaryngology-Head and Neck Surgery, Children's National Medical Center, Washington, DC, USA., Grundfast KM, Rosenbaum KN

Publikováno v: Archives of otolaryngology--head & neck surgery [Arch Otolaryngol Head Neck Surg] 1998 Feb; Vol. 124 (2), pp. 193-6.

Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings.

Autor: Cohen MS; Department of Medical Genetics, Children's National Medical Center, Washington, DC 20010-2970, USA., Samango-Sprouse CA, Stern HJ, Custer DA, Vaught DR, Saal HM, Tifft CJ, Rosenbaum KN

Publikováno v: American journal of medical genetics [Am J Med Genet] 1995 Dec 18; Vol. 60 (6), pp. 535-40.