Výsledky vyhledávání - "S R, Braddock"

Establishment of normative data for orbital and nasal soft-tissue measurements among Filipino children

Autor: C M, Barone, D F, Jimenez, A L, Laskey, S R, Braddock, A L, Lasky

Publikováno v: The Journal of craniofacial surgery. 12(5)

This article establishes the soft-tissue norms among Filipino children from ages birth to 17 years of age. Specific measurements were made at the inner canthal region, the outer canthal region, and the nasal length. This was to help establish normati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e6a5b10ac03a535a2683ca7e04dffac
https://pubmed.ncbi.nlm.nih.gov/11572246

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Tertiary trisomy due to a reciprocal translocation of chromosomes 5 and 21 in a four-generation family

Autor: S R, Braddock, K M, Henley, K L, Potter, H G, Nguyen, T H, Huang

Publikováno v: American journal of medical genetics. 92(5)

Tertiary trisomy, or double trisomy, is a rare occurrence. We present two individuals with a previously unreported tertiary trisomy for chromosomes 5p and 21q in an eight-generation pedigree. Their phenotypes are compared with other partial trisomies

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a3495af37839682ebf2ec1823d4bf389
https://pubmed.ncbi.nlm.nih.gov/10861659

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Weaver syndrome: autosomal dominant inheritance of the disorder

Autor: V K, Proud, S R, Braddock, L, Cook, D D, Weaver

Publikováno v: American journal of medical genetics. 79(4)

Weaver syndrome (WS), a condition first described in 1974 by Weaver et al., consists of macrosomia, advanced skeletal age, characteristic pattern of facial and radiographic anomalies, and contractures. Although there have been three reports of close

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::33820eca67fe233c8bba2b087fc15831
https://pubmed.ncbi.nlm.nih.gov/9781912

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Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene

Autor: J M, Graham, S R, Braddock, G R, Mortier, R, Lachman, C, Van Dop, E W, Jabs

Publikováno v: American journal of medical genetics. 77(4)

Recently, a unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was reported in 61 individuals with coronal craniosynostosis from 20 unrelated families [Muenke et al. (1997): Am J Hum Genet 60:555-564]. The discovery of thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::66f9ef541f93ef92ebfc52fe445c6ffa
https://pubmed.ncbi.nlm.nih.gov/9600744

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A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay

Autor: S R, Braddock, J C, Carey

Publikováno v: Clinical dysmorphology. 3(1)

We present two female children with a distinctive pattern of malformation, including persistent thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. We feel that these findings constitute a he

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bd3d33fd24658e43fa4553bddbbf3e9a
https://pubmed.ncbi.nlm.nih.gov/7515754

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