Zobrazeno 1 - 10
of 27
pro vyhledávání: '"I. T. Thomas"'
Publikováno v:
American Journal of Medical Genetics. 47:1147-1150
We report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay and an interstitial deletion of band q22 of chromosome 3. A review of chromosome 3q anomalies associated with eye abnormalities, specifically blep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd176bf53c6b706f249f38ab20f7424
https://doi.org/10.1002/ajmg.1320470802
https://doi.org/10.1002/ajmg.1320470802
Publikováno v:
American Journal of Medical Genetics. 47:478-481
Williams syndrome (WS) usually occurs sporadically. Few familial cases of Williams syndrome have been described, and those reports have often lacked photographic documentation. We describe 3 families, including a 3-year-old boy and his 34-year-old fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b72eddb2e33eba74d4682d08f93ddc23
https://doi.org/10.1002/ajmg.1320470409
https://doi.org/10.1002/ajmg.1320470409
Autor:
I. T. Thomas, Lisa A. Teot, J. C. Veille, P. N. Rao, Rosa Hayworth, Mark J. Pettenati, C. Smith
Publikováno v:
American Journal of Medical Genetics. 45:365-369
We report on 2 cases with different de novo unbalanced mosaic karyotypes in which each cell line had a different structural abnormality involving a common chromosome region: 46,XX,del(11)(q23.3)/46,XX,−11,+der(11)t(11;?)(q23.3;?) and 46,X,idic(Xq)/
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eee9c191c17eed7ee95d85b01feb5163
https://doi.org/10.1002/ajmg.1320450317
https://doi.org/10.1002/ajmg.1320450317
Publikováno v:
American Journal of Medical Genetics. 40:509-512
We report on a patient with bilateral microphthalmia and unusual cataracts with a de novo pericentric inversion of chromosome (2)(p21q31). A literature review of previous associations of eye abnormalities and anomalies of chromosome 2 suggests probab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42d53e25bb16d8ebe5e250c3de654713
https://doi.org/10.1002/ajmg.1320400428
https://doi.org/10.1002/ajmg.1320400428
Publikováno v:
American Journal of Medical Genetics. 45:767-769
We report on 2 sibs with cardiac and renal abnormalities. The first had hypoplastic left heart sequence and renal hypoplasia; the second had a complex congenital heart defect, renal agenesis, and cleft lip and palate. We suggest that these cases repr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d71cbc78856a710fb8cef6ac8d7975e8
https://doi.org/10.1002/ajmg.1320450621
https://doi.org/10.1002/ajmg.1320450621
Autor:
Kerry Crandall, Nancy B. Spinner, Beverly S. Emanuel, I. T. Thomas, Stephen R. Dlouhy, Victoria M. Pratt, Dwight Stambolian, Sue Malcolm, Karen Woodward, John Kamholz, Elaine H. Zackai, Marion E. Hodes, Agnes Enrico-Simon
The proteolipid protein gene (PLP) is normally present at chromosome Xq22. Mutations and duplications of this gene are associated with Pelizaeus-Merzbacher disease (PMD). Here we describe two new families in which males affected with PMD were found t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2198490fcd963de6fbcfa7b5bff86606
https://europepmc.org/articles/PMC1287072/
https://europepmc.org/articles/PMC1287072/
Autor:
I. T. Thomas, Nagesh Rao, Christine A. Johnson, Olson Huff, Mark J. Pettenati, Kerry Crandall, Rosa Hayworth
Publikováno v:
Human genetics. 89(6)
We report a family in which three members presented with minimal phenotypic abnormalities, normal intelligence to mild mental retardation, and a cytogenetically terminal chromosome deletion at band 8p23.1 Whole chromosomal painting with a chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dc33dd43b11de4fd6de77f6a50d08f9
https://pubmed.ncbi.nlm.nih.gov/1511976
https://pubmed.ncbi.nlm.nih.gov/1511976
Autor:
Jaime L. Frias, Paula W. Brill, Charles A. Williams, Leonard O. Langer, Ehsan Afshani, I. T. Thomas
Publikováno v:
Skeletal radiology. 20(1)
We describe the radiographic findings in two siblings with a previously unrecognized craniotubular bone dysplasia. We call this condition craniometadiaphyseal dysplasia, wormian bone type. Because the parents of the siblings are consanguineous, this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f915fa3c990411c0686b7d58c48ba71
https://pubmed.ncbi.nlm.nih.gov/2000503
https://pubmed.ncbi.nlm.nih.gov/2000503
Publikováno v:
American Journal of Medical Genetics. 47:1151-1152
We describe 2 brothers with cardiomyopathy and hypergonadotropic hypogonadism and conclude that this is the first description of the Najjar syndrome in the United States. The inheritance may be autosomal recessive.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dc448103d5614021ec9b6152378ee6c
https://doi.org/10.1002/ajmg.1320470803
https://doi.org/10.1002/ajmg.1320470803
Publikováno v:
American Journal of Medical Genetics. 46:180-181
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aa69322e51a6e1bf091788b3a4dc98a
https://doi.org/10.1002/ajmg.1320460216
https://doi.org/10.1002/ajmg.1320460216