Zobrazeno 1 - 10
of 28
pro vyhledávání: '"O. T. Mueller"'
Publikováno v:
Clinical Genetics. 17:323-334
Two young adult siblings were diagnosed as having a deficiency of acid beta-galactosidase activity in leukocytes and fibroblasts. The parents had enzyme levels approximately half of the normal level, consistent with this being the primary enzymatic l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d3cadf1a4936c2ced55e2d8452ec2cd
https://doi.org/10.1111/j.1399-0004.1980.tb00158.x
https://doi.org/10.1111/j.1399-0004.1980.tb00158.x
Autor:
Peter Papenhausen, Theresa M. Diamond, Maxine J. Sutcliffe, Boris G. Kousseff, Virginia P. Johnson, O. T. Mueller
Publikováno v:
American Journal of Medical Genetics. 59:271-275
Uniparental disomy (UPD) of a number of different chromosomes has been found in associated with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating. We report on a case of paternal UP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1fb06fa66fbd4068818cc7bc7d094565
https://doi.org/10.1002/ajmg.1320590302
https://doi.org/10.1002/ajmg.1320590302
Publikováno v:
American Journal of Medical Genetics. 60:302-306
Fragile X syndrome is associated with an unstable repeated CGG trinucleotide sequence in the 5' untranslated region of the FMR-1 gene. A significant number of individuals with a mild or atypical presentation are mosaics for the CGG expansion. We repo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a08065008154b5cf1b95bddafc25b3
https://doi.org/10.1002/ajmg.1320600408
https://doi.org/10.1002/ajmg.1320600408
Autor:
R. A. Quintero, O. T. Mueller, J. M. Martínez, J. Arroyo, E. Gilbert-Barness, D. Hilbelink, P. Papenhausen, M. Sutcliffe
Publikováno v:
The Journal of Maternal-Fetal & Neonatal Medicine. 14:279-281
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0186a62434a95b6d175218adec91b2e
https://doi.org/10.1080/713606661
https://doi.org/10.1080/713606661
Autor:
D Stiff, D I Shulman, L C Freeman, L Immken, L M Dolan, O T Mueller, Anastasia Clark, Songya Pang
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 75:249-253
Prenatal treatment of virilizing congenital adrenal hyperplasia in female fetuses via maternal dexamethasone (Dex) therapy (1-1.5 mg/day) from first trimester to birth was associated with excessive weight gain (47-56 pounds at 35-37 weeks gestation),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::162b504a23ad7b18dcd017bd96276144
https://doi.org/10.1210/jcem.75.1.1619017
https://doi.org/10.1210/jcem.75.1.1619017
Autor:
Enid Gilbert-Barness, O. T. Mueller, Peter Papenhausen, J. Arroyo, M. Sutcliffe, Rubén A. Quintero, Josep M. Martinez, D. Hilbelink
Publikováno v:
The journal of maternal-fetalneonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 14(4)
We present a case of twin-twin transfusion syndrome with discordant gender. Monochorionicity was confirmed by surgical pathology. Cytogenetic analysis showed normal 46,XX and 46,XY karyotypes. Microsatellite analysis using reliable pericentromeric ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c2c4651c4941d95ace3a340e15cb21b
https://pubmed.ncbi.nlm.nih.gov/14738176
https://pubmed.ncbi.nlm.nih.gov/14738176
Publikováno v:
Advances in pediatrics. 48
Inherited polyneuropathies present in the first 2 years of life are discussed with emphasis on clinical, pathologic, and molecular data. Early-onset polyneuropathies are relatively rare, sometimes life-threatening conditions that demand early recogni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::942732a59e6544e83c2f2249ecbb5099
https://pubmed.ncbi.nlm.nih.gov/11480758
https://pubmed.ncbi.nlm.nih.gov/11480758
Autor:
M J, Sutcliffe, O T, Mueller, B G, Kousseff, D P, Dumont, J A, McFarland, F, Mawani, D, Conforto, J D, Ranells
Publikováno v:
American journal of medical genetics. 102(2)
We report on a 3.5-year-old girl with a mosaic karyotype including full trisomy 18, normal cells and a majority of cells with partial trisomy involving an extra chromosome 18 deleted at band q22. She had cardiac and CNS anomalies, dysmorphic facial f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2f9d308fd43aff256664aa69156b4ba0
https://pubmed.ncbi.nlm.nih.gov/11477615
https://pubmed.ncbi.nlm.nih.gov/11477615
Publikováno v:
The Journal of the Florida Medical Association. 81(2)
Presymptomatic genetic testing for Huntington's disease has been available since 1986. Recent discovery of the distinct gene by the Huntington's Disease Collaborative Research Group will probably simplify testing and encourage more people to pursue i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aeaf3ef5939b9b8db3ca8dfa7cf33fea
https://pubmed.ncbi.nlm.nih.gov/8169585
https://pubmed.ncbi.nlm.nih.gov/8169585
Publikováno v:
Genomics. 18(2)
Mucolipidosis II (ML II, I-cell disease) and mucolipidosis III (ML III, pseudo-Hurler polydystrophy) are human autosomal recessive genetic disorders resulting from deficient UDP-N-acetylglucosamine:lysosomal enzyme precursor N-acetylglucosamine-1-pho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b5d468bebffa1c047ef664f625dd8b3
https://pubmed.ncbi.nlm.nih.gov/8288225
https://pubmed.ncbi.nlm.nih.gov/8288225