Výsledky vyhledávání - "developmental field defect"

Renal defects and limb deficiencies in 197 infants

Publikováno v: American Journal of Medical Genetics. Part A. (2):149-155

Dieker and Opitz in 1969 described the simultaneous occurrence of limb deficiencies (LDs) and renal anomalies (RAs) in three patients. Curran and Curran introduced in 1972 the term "acrorenal syndrome." Since then, the term "acrorenal syndrome" is us

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dris___00893::eb0f9a75b89f4dda073ca3761300f175
https://hdl.handle.net/11370/1c04077b-9f58-4ff6-9198-245c0974cc30

Zobrazit plný text záznamu

Acrocallosal syndrome in Algerian boy born to consanguineous parents: Review of the literature and further delineation of the syndrome

Autor: Albert Schinzel, Winnie Courtens, Catherine Christophe, Eszter P. Vamos

Publikováno v: American Journal of Medical Genetics. 69:17-22

We present a 17-month-old boy with the acrocallosal syndrome. He was born to consanguineous parents. Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, cleft soft palate, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16259e0577745bb953cfc447f96cce72
https://doi.org/10.1002/(sici)1096-8628(19970303)69:1<17::aid-ajmg4>3.0.co

Zobrazit plný text záznamu

Sirenomelia and VACTERL association in the offspring of a woman with diabetes

Autor: S Cappellacci, Paola Grammatico, Francesco Binni, Giovanna Scassellati Sforzolini, Marco Castori, Evelina Silvestri

Publikováno v: American journal of medical genetics. Part A. (7)

Sirenomelia and VACTERL association are defects of blastogenesis of unknown cause. Although they appear clinically distinct, some epidemiological and experimental studies suggest a common pathogenetic mechanism. We report on the reproductive history

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b9377b6a40f1973911ccc3fe86e6275
https://pubmed.ncbi.nlm.nih.gov/20583159

Zobrazit plný text záznamu

Renal defects and limb deficiencies in 197 infants: Is it possible to define the 'acrorenal syndrome'?

Autor: Kroes, Hester Y., Olney, Richard S., Rosano, Aldo, Liu, Yecai, Castilla, Eduardo E., Cocchi, Guido, De Vigan, Catherine, Martínez-Frías, María L., Mastroiacovo, Pierpaolo, Merlob, Paul, Mutchinick, Osvaldo, Ritvanen, Annukka, Stoll, Claude, Van Essen, Anthonie J., Cobben, Jan Maarten, Cornel, Martina C.

Publikováno v: American Journal of Medical Genetics, 129(2), 149-155. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 129A(2), 149-155. Wiley
American journal of medical genetics. Part A, 129A(2), 149-155. Wiley-Liss Inc.
Kroes, H Y, Olney, R S, Rosano, A, Liu, Y, Castilla, E E, Cocchi, G, De Vigan, C, Martínez-Frías, M L, Mastroiacovo, P, Merlob, P, Mutchinick, O, Ritvanen, A, Stoll, C, Van Essen, A J, Cobben, J M & Cornel, M C 2004, ' Renal defects and limb deficiencies in 197 infants : Is it possible to define the "acrorenal syndrome"? ', American Journal of Medical Genetics, vol. 129, no. 2, pp. 149-155 . https://doi.org/10.1002/ajmg.a.30176

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::69e2040e2245f2bf8d67c9527f00239b
https://research.vumc.nl/en/publications/a5bb3ff5-88b4-4b98-b258-9b3e64010af8

Zobrazit plný text záznamu

Two cases of the caudal duplication anomaly including a discordant monozygotic twin

Autor: Robert M.W. Hofstra, Jall Baert, Meiko Takahashi, RJ Zijlstra, Hester Y. Kroes, van Ton Essen, Krista Kooi

Publikováno v: American Journal of Medical Genetics, 112(4), 390-393. WILEY-LISS

We present two unrelated patients with various duplications in the caudal region. One patient presented with a duplication of the distal spine from L4, left double ureter, duplication of the vagina and cervix, and duplication of the distal colon. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d18cd85ec96ba11c54c86e91560ddb
https://pubmed.ncbi.nlm.nih.gov/12376942

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání