Zobrazeno 1 - 10
of 10
pro vyhledávání: '"M T, Geraghty"'
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
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3 páginas, 2 figuras.
Identification of mutations in the hairless (HR) gene in patients with atrichia with papular lesions (APL) has proven of critical importance, as it provides a basis for the differentiation between APL and alopecia universa
Identification of mutations in the hairless (HR) gene in patients with atrichia with papular lesions (APL) has proven of critical importance, as it provides a basis for the differentiation between APL and alopecia universa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fbc446c82b97f022cd19efbf20e1e47
https://pubmed.ncbi.nlm.nih.gov/15953070
https://pubmed.ncbi.nlm.nih.gov/15953070
Autor:
M, Li, C, Shuman, Y L, Fei, E, Cutiongco, H A, Bender, C, Stevens, L, Wilkins-Haug, D, Day-Salvatore, S L, Yong, M T, Geraghty, J, Squire, R, Weksberg
Publikováno v:
American journal of medical genetics. 102(2)
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome caused by deletions in glypican 3 (GPC3). SGBS is characterized by pre- and postnatal overgrowth, a characteristic facial appearance, and a spectrum of congenital malformations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ee61d38e284ef1a2c428524e63386ae0
https://pubmed.ncbi.nlm.nih.gov/11477610
https://pubmed.ncbi.nlm.nih.gov/11477610
Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)
Autor:
C B, Cargile, I, McIntosh, M V, Clough, J, Rutberg, R, Yaghmai, B K, Goodman, X N, Chen, J R, Korenberg, G H, Thomas, M T, Geraghty
Publikováno v:
American journal of medical genetics. 92(5)
The relationship of delayed membranous cranial ossification to cranium bifidum and parietal foramina syndromes is unclear. We report on a family with delayed cranial membranous ossification (OMIM 155980) that segregates with an apparently balanced re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::26418d19d8c2c17e17c791977b61f9d0
https://pubmed.ncbi.nlm.nih.gov/10861662
https://pubmed.ncbi.nlm.nih.gov/10861662
Publikováno v:
American journal of medical genetics. 87(5)
The term "ring syndrome" was proposed to describe a phenotype of growth failure without major malformations due to a ring autosome. The growth failure is thought to be caused by instability of the ring chromosome leading to aneusomy and cell death. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bb6d71f61ddde08c7434d5e22a3e3750
https://pubmed.ncbi.nlm.nih.gov/10594875
https://pubmed.ncbi.nlm.nih.gov/10594875
Autor:
B K, Goodman, L G, Shaffer, J, Rutberg, M, Leppert, K, Harum, S, Gagos, J H, Ray, M G, Bialer, X, Zhou, B A, Pletcher, S K, Shapira, M T, Geraghty
Publikováno v:
American journal of medical genetics. 80(4)
We describe the clinical phenotype in four males from three families with duplication (X)(qter--q27::p22.3--qter). This is an unusual duplication of the distal long arm segment, Xq27-qter, onto the distal short arm of the X chromosome at Xp22.3, as s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::be6efda8c52bb8f012b444ebd8d8cf6c
https://pubmed.ncbi.nlm.nih.gov/9856567
https://pubmed.ncbi.nlm.nih.gov/9856567
Autor:
A.M. Meloni, M.J.M. Wilbrink, M T Geraghty, H.A.P. Janssen, Avery A. Sandberg, B. de Leeuw, R.F. Suijkerbuijk, Richard J. Sinke, Anthony P. Monaco, A. Geurts van Kessel
Publikováno v:
Cancer Genetics and Cytogenetics, 71(2), 164-9. ELSEVIER SCIENCE INC
Recently, a specific chromosome abnormality, t(X;1)(p11;q21), was described for a subgroup of human papillary renal cell carcinomas. The translocation breakpoint in Xp11 is located in the same region as that in t(X;18)(p11;q11)-positive synovial sarc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cdc93888f865499ac93a543dbcb46fd
https://pubmed.ncbi.nlm.nih.gov/8281521
https://pubmed.ncbi.nlm.nih.gov/8281521
Autor:
B. De Leeuw, W. Berger, R. J. Sinke, R. F. Suijkerbuijk, S. Gilgenkrantz, M. T. Geraghty, D. Valle, A. P. Monaco, H. Lehrach, H. H. Ropers, A. Geurts Van Kessel
Publikováno v:
GENES CHROMOSOMES & CANCER, 6(3), 182-189. Wiley
A somatic cell hybrid containing the synovial sarcoma-associated t(X;18)(p11.2;q11.2) derivative (der(X)) chromosome was used to characterize the translocation breakpoint region on the X chromosome. By using Southern hybridization of DNA from this de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::510852df383fe001ba3ca1524e95c889
https://research.rug.nl/en/publications/c8803326-7ef3-4b56-a21a-8c651e0c1a62
https://research.rug.nl/en/publications/c8803326-7ef3-4b56-a21a-8c651e0c1a62
Publikováno v:
Journal of medical genetics. 25(4)
There is significant evidence for genetic and phenotypic heterogeneity in X linked retinitis pigmentosa (XLRP). We have studied the linkage of XLRP in four Irish families to a number of polymorphic DNA markers. We report linkage between the DXS7 (L1.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a49efdb63f65fc9873ba0a49315d8e2
https://pubmed.ncbi.nlm.nih.gov/3163380
https://pubmed.ncbi.nlm.nih.gov/3163380
Publikováno v:
Irish journal of medical science. 155(12)
Two intragenic recombinant DNA probes derived from segments of the factor IX gene have been used to investigateTaql, Ddel and Xmnl restriction fragment length polymorphisms (RFLPs) in DNA from two Irish haemophilia B families.Xmnl and Taql polymorphi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c962983e4f3a147c708e55af71e6a31
https://pubmed.ncbi.nlm.nih.gov/3818253
https://pubmed.ncbi.nlm.nih.gov/3818253
Autor:
Ingo Meuthen, Janet Kerwin, Teresa de Berardinis, Alfons Meindl, Costantino Schiavi, Robyn V. Jamieson, Christina Pieh, Hagit N. Baris, Bettina Wabbels, Feray Koc, Wei He, Scott L. Pomeroy, Maree Flaherty, Joseph L. Demer, David A. Mackey, Emin Cumhur Sener, Jonathan B Ruddle, Lionel Van Maldergem, Louise J. Sabol, Susan Lindsay, Nicolas Uzcategui, Irene Gottlob, David F. Callen, Max A. Tischfield, Richard L. Robertson, Clara E. de Uzcategui, Thomas D. Bird, Janet S. Soul, Alex V. Levin, Marco Pastore-Trossello, Thomas Meitinger, Hans Ulrik Møller, Elizabeth C. Engle, Mary Louise Z. Collins, David G. Hunter, Maria Descartes, Edward J. Doherty, Mohan L. Gupta, Adriano Magli, Agnes M. F. Wong, Caroline Andrews, Chen Wu, Elias I. Traboulsi, Wai-Man Chan, Michael T. Geraghty, David Pellman, Anna Newlin, G. Rudolph, Heide Hellebrand
none 49 We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tubulin isotype III, result in a spectrum of human nervous system disorders that we now call the TUBB3 syndromes. Each mutation causes the ocular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b601b8af477f5b7fbdfc8f57b962a518
http://hdl.handle.net/11585/89525
http://hdl.handle.net/11585/89525