Zobrazeno 1 - 10 of 95 pro vyhledávání: '"J. Siegel-Bartelt"'
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Patients with deletions of 9q22q34 do not define a syndrome: three case reports and a literature review
Autor: J. Siegel-Bartelt, I. Teshima, S. A. Farrell
Publikováno v: Clinical Genetics. 40:207-214
Three children with deletions involving the 9q22q34 region are described. A review of clinical features of these three new patients and seven previously reported ones did not demonstrate a recognizable dysmorphic pattern. Our cases illustrate the nee
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ba90130cb68a87b9d4348e348e9f4b
https://doi.org/10.1111/j.1399-0004.1991.tb03078.x
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3
Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature
Autor: Ikuko Teshima, J. Siegel-Bartelt, Bridget A. Fernandez, Stephen W. Scherer, Jo-Anne Herbrick
Publikováno v: Clinical Genetics. 68:349-359
Holoprosencephaly (HPE) is a genetically heterogeneous developmental field defect in which midline cleavage of the forebrain and craniofacial structures is impaired. Based on the analysis of HPE patients with chromosome rearrangements, at least six l
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8164fd8a5e8a4b35722f2a0f3ec91795
https://doi.org/10.1111/j.1399-0004.2005.00498.x
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4
Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions
Autor: Ikuko Teshima, J. Siegel-Bartelt, Małgorzata J.M. Nowaczyk, Joe T.R. Clarke
Publikováno v: American Journal of Medical Genetics. 69:400-405
We report on 2 patients with de novo proximal interstitial deletions of the long arm of chromosome 4: in one the deletion resulted in monosomy (4)(q21.3q23), in the other it produced monosomy (4)(q13.2q23). Review of 9 cases of deletions involving th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2bdcbca7a3b4e6933ff5d20d12327ce8
https://doi.org/10.1002/(sici)1096-8628(19970414)69:4<400::aid-ajmg12>3.0.co
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6
A 4-Megabase YAC Contig That Spans the Langer-Giedion Syndrome Region on Human Chromosome 8q24.1: Use in Refining the Location of the Trichorhinophalangeal Syndrome and Multiple Exostoses Genes (TRPS1 and EXT1)
Autor: J. Siegel-Bartelt, W. Chen, April Hill, J. Hou, F. F B Elder, Hope Northrup, Dan E. Wells, Julia E. Parrish, H.-J. Lüdecke, C. Chinault, B. Horsthemke, M. Sapru, Michael J. Wagner, Y. Wang
Publikováno v: Genomics. 29:87-97
We have constructed a physical map covering over 4 Mb of human chromosome 8q24.1 and used this map to refine the locations of the genes responsible for Langer-Giedion syndrome. The map is composed of overlapping YAC clones that were identified and or
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2080cc67bbd928379dd0484c11b3bfc
https://doi.org/10.1006/geno.1995.1218
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7
Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature
Autor: B A, Fernandez, J, Siegel-Bartelt, J-A S, Herbrick, I, Teshima, S W, Scherer
Publikováno v: Clinical genetics. 68(4)
Holoprosencephaly (HPE) is a genetically heterogeneous developmental field defect in which midline cleavage of the forebrain and craniofacial structures is impaired. Based on the analysis of HPE patients with chromosome rearrangements, at least six l
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b9740fa67373737cf8695c24a5bf086f
https://pubmed.ncbi.nlm.nih.gov/16143022
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9
Cutaneous telangiectasias, sparse hair, and type I membranoproliferative glomerulonephritis
Autor: Indra R. Gupta, Paul S. Thorner, J W Balfe, J. Siegel-Bartelt, C. H. Tsai
Publikováno v: Pediatric nephrology (Berlin, Germany). 13(2)
We report the unusual association of normocomplementemic type I membranoproliferative glomerulonephritis in a 10-year-old girl with sparse red hair, absent eyebrows and eyelashes, cutaneous telangiectasias, and an atrial septal defect.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c95f73eeb3756b5065714939e613b02
https://pubmed.ncbi.nlm.nih.gov/10228999
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10
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome
Autor: J. Siegel-Bartelt, Peter N. Ray, John Phillips, David Chitayat, Kathy Chun
Publikováno v: American journal of medical genetics. 77(3)
The Antley-Bixler syndrome (ABS) is a rare syndrome with synostosis of cranial sutures and elbow joints as minimal diagnostic criteria. The inheritance has been suggested to be autosomal recessive based on two families with sib recurrence with both s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::109d9881e954e93e3ffa47d53bf9cc71
https://pubmed.ncbi.nlm.nih.gov/10076887
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