Zobrazeno 1 - 10
of 47
pro vyhledávání: '"James V. Higgins"'
Publikováno v:
Clinical Genetics. 18:88-90
A family is described in which half-siblings, a boy and a girl born to unrelated mothers and a phenotypically normal father, were affected with omphalocele. The suggested mode of transmission remains unclear. Prenatal diagnosis to detect an affected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9324742abdcf10abbe52a069e64bddc1
https://doi.org/10.1111/j.1399-0004.1980.tb01370.x
https://doi.org/10.1111/j.1399-0004.1980.tb01370.x
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 25:301-306
Background: Magnesium deficiency may contribute to the metabolic bone disease that complicates chronic cholestatic liver disease. We hypothesized that magnesium deficiency alters vitamin D metabolism by decreasing parathyroid hormone (PTH) response,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a5108a7eb0762a146a8ec4181c50022
https://doi.org/10.1097/00005176-199709000-00010
https://doi.org/10.1097/00005176-199709000-00010
Autor:
James V. Higgins, Thomas W. Glover, Kazuhiko Takahara, Helga V. Toriello, Peter H. Byers, Daniel S. Greenspan, Diane E. Miller
Publikováno v:
Nature Genetics. 13:361-365
Ehlers-Danlos syndrome (EDS) is a genetically and pathogenetically heterogeneous group of disorders of which at least 11 types have been described. All are connective tissue disorders characterized by defects of the skin, ligaments and blood vessels
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d46f53d858c77ad52994dc7d2819f61
https://doi.org/10.1038/ng0796-361
https://doi.org/10.1038/ng0796-361
Autor:
Helga V. Toriello, James V. Higgins
Publikováno v:
American Journal of Medical Genetics. 55:200-204
We describe a boy with low birth weight, congenital microcephaly, multiple minor facial anomalies, cleft palate, soft tissue syndactyly of fingers and toes, and moderate to severe mental retardation. Literature review suggested 6 possible diagnoses,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c73f89270def818d2d200dd0d3128a48
https://doi.org/10.1002/ajmg.1320550210
https://doi.org/10.1002/ajmg.1320550210
Autor:
Paul T. von Oeyen, James V. Higgins, David J. Aughton, Rex Schulz, Christine H. Comstock, Judith A. Johnson
Publikováno v:
American Journal of Medical Genetics. 49:240-243
Smith–Lemli–Opitz syndrome, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual cleft palate, postaxial polydactyly, congenital heart defects, renal anomalies, and male pseudohermaphroditism. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfd75df7b03cee0ca1a41f742fed1551
https://doi.org/10.1002/ajmg.1320490216
https://doi.org/10.1002/ajmg.1320490216
Autor:
Mohamed H. El-Fouly, Maria Costa-Fox, James V. Higgins, Beverly J. Sankey, David N. Matisoff, Saroj Kapur
Publikováno v:
American Journal of Medical Genetics. 38:569-573
A term white girl presented with low birth weight, minor anomalies, and congenital heart defects. The infant had microcephaly, upslanting palpebral fissures, prominent nasal bridge, short philtrum, thin upper lip vermilion, down-turned corners of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a32b89ad8e2f9d2e95d4c714bebff01
https://doi.org/10.1002/ajmg.1320380415
https://doi.org/10.1002/ajmg.1320380415
Publikováno v:
American Journal of Medical Genetics. 36:398-403
A brother and sister with Tel Hashomer camptodactyly and mitral valve prolapse are described. Mitral valve prolapse is heterogenous, but appears to occur more frequently in individuals with connective tissue disorders. The presence of mitral valve pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909f31c303c2974615dbc685b561ade1
https://doi.org/10.1002/ajmg.1320360406
https://doi.org/10.1002/ajmg.1320360406
Publikováno v:
American Journal of Medical Genetics. 45:764-766
We describe an apparently new syndrome in 2 unrelated boys with aplasia cutis congenita, epibulbar dermoids, postnatally appearing areas of truncal hyperpigmentation, and macrocephaly. © 1993 Wiley-Liss, Inc.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::095759a05d32a28968ba040a917979a4
https://doi.org/10.1002/ajmg.1320450620
https://doi.org/10.1002/ajmg.1320450620
Autor:
James V. Higgins, Mary Ella M Pierpont, Michaelene Lopez, Beth A. Conrad, Gordon W. Dewald, Eric R. Christensen
Publikováno v:
Clinical genetics. 48(3)
Three children with deletions of the terminal portion of the long arm of chromosome 2 [del (2) (q37)] are described and their clinical findings compared to published cases of 2q terminal deletions. Common clinical findings include development delay,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ba1bb8c8ef7bf67b69c8697ae3aecfe
https://pubmed.ncbi.nlm.nih.gov/9184258
https://pubmed.ncbi.nlm.nih.gov/9184258