Zobrazeno 1 - 10
of 55
pro vyhledávání: '"V M Der Kaloustian"'
Publikováno v:
Clinical Genetics. 25:455-458
A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(411q13). The parents are consanguineous. Their
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81a6ae9f275dd9febb5f4392331b43c6
https://doi.org/10.1111/j.1399-0004.1984.tb02016.x
https://doi.org/10.1111/j.1399-0004.1984.tb02016.x
Publikováno v:
American Journal of Medical Genetics. :123-127
Proteus syndrome is a complex hamartomatous disorder characterized by asymmetrical gigantism, epidermal nevi, vascular malformations, hamartomas, lipomas, and hyperostosis. Since the syndrome was first described, many hypotheses have been proposed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::194ee33f6430c070632fd75276f38955
https://doi.org/10.1002/ajmg.a.30335
https://doi.org/10.1002/ajmg.a.30335
Autor:
Bjorn R. Olsen, Susana Ely Kliemann, Sérgio Rosemberg, M. Carpenter, A. L. Sertié, M. Monteiro, A. E. Czeizel, Maria Rita Passos-Bueno, Fernando Kok, V M Der Kaloustian, Joseph A. Murray, Oscar Suzuki
Publikováno v:
The American Journal of Human Genetics. 71:1320-1329
Knobloch syndrome (KS) is a rare disease characterized by severe ocular alterations, including vitreoretinal degeneration associated with retinal detachment and occipital scalp defect. The responsible gene, COL18A1, has been mapped to 21q22.3, and, o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd7b08670ccaa766b8ee644602c244b3
https://doi.org/10.1086/344695
https://doi.org/10.1086/344695
Autor:
F. C. Fraser, V. M. Der Kaloustian
Publikováno v:
American Journal of Medical Genetics. 100:164-168
This paper presents a biographical sketch of Dr. H. R. Clouston, whose eponym is attached to a type of hidrotic ectodermal dystrophy, and a brief account of the mapping of the gene and its identification as the connexin gene, GJB6.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::66b30a2f46c4bad73f57a564f67e457f
https://doi.org/10.1002/1096-8628(20010422)100:2<164::aid-ajmg1244>3.0.co
https://doi.org/10.1002/1096-8628(20010422)100:2<164::aid-ajmg1244>3.0.co
Autor:
Marie-Pierre Dubé, A. Benohanian, David P. Kelsell, Guy A. Rouleau, Susan J. Hayflick, Alain Hovnanian, R. Gosselin, A. L. Christianson, F. C. Fraser, Stylianos E. Antonarakis, M. L. Stephan, V M Der Kaloustian, C. McCuaig, J. Powell, Uppala Radhakrishna, Zoha Kibar, A. D. Sheeran, Jonathan Zonana
Publikováno v:
European Journal of Human Genetics, Vol. 8, No 5 (2000) pp. 372-380
HED is an autosomal dominant skin disorder that is particularly common in the French Canadian population of south-west Quebec. We previously mapped the HED gene to the pericentromeric region of chromosome 13q using linkage analysis in eight French Ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7751e8ad241b40c7ac36075186eff6c9
https://doi.org/10.1038/sj.ejhg.5200471
https://doi.org/10.1038/sj.ejhg.5200471
Autor:
V. M. Der Kaloustian, A. K. Kurban
The two organs of the body most accessible to examination are the eye and the skin and its appendages. That is why, it is said, ophthalmological genetics is in such flourishing good health. Dermatological genetics does not seem to have benefited so m
Publikováno v:
American Journal of Medical Genetics. 79:30-34
We report on a family ascertained through a 14-month-old girl with a terminal deletion of chromosome 8p23.1. Analysis of the karyotype of other relatives showed that the mother is the carrier of a balanced complex 4-break chromosome rearrangement, wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::483c869f75e2a66981d0eb0770394b59
https://doi.org/10.1002/(sici)1096-8628(19980827)79:1<30::aid-ajmg8>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980827)79:1<30::aid-ajmg8>3.0.co
Publikováno v:
American Journal of Medical Genetics. 78:254-259
The King syndrome is characterized by a Noonan-like phenotype, the presence of a nonspecific myopathy and a predisposition to malignant hyperthermia. In some families, mild physical manifestations of the phenotype and/or elevated serum creatine phosp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc44e15d5ee2d806b7930f27a3921d73
https://doi.org/10.1002/(sici)1096-8628(19980707)78:3<254::aid-ajmg9>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980707)78:3<254::aid-ajmg9>3.0.co
Autor:
Karl Hackmann, Gabriele Hahn, C Krause, N. Di Donato, Andreas Rump, Evelin Schröck, K Sonntag, V M Der Kaloustian, F Halal, Alain Verloes, R Koenig
Publikováno v:
European journal of human genetics : EJHG. 22(2)
ACTB and ACTG1 mutations have recently been reported to cause Baraitser–Winter syndrome (BRWS) – a rare condition characterized by ptosis, colobomata, neuronal migration disorder, distinct facial anomalies and intellectual disability. One of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::145263cc3bf5393c0da5a2430466c2d0
https://pubmed.ncbi.nlm.nih.gov/23756437
https://pubmed.ncbi.nlm.nih.gov/23756437
Autor:
V M Der Kaloustian, Alexandra S. Richter, John J. Mitchell, Robert S. Sparkes, Bernhard H. F. Weber, T. Kojis, Michael R. Hayden, Gordon V. Watters, S. Luscombe, Michel Vekemans
Publikováno v:
American Journal of Medical Genetics. 49:384-387
A mentally retarded male with dysmorphic features was found to have a de novo 46,XY,inv dup(8) (p.23.1-->12). Confirmation of the segments duplicated in the rearrangement was achieved by biochemical analysis of glutathione reductase, which maps to 8p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d6ed8115bd4fdf579560f240ad66974
https://doi.org/10.1002/ajmg.1320490406
https://doi.org/10.1002/ajmg.1320490406