Výsledky vyhledávání - "Jill K. Tapper"

A Rapid and Noninvasive Method for Detecting Tissue-Limited Mosaicism: Detection of i(12)(p10) in Buccal Smear from a Child with Pallister-Killian Syndrome

Autor: Judy C. Hawkins, Lillian H. Lockhart, Shuliu Zhang, Jill K. Tapper, Gopalrao V.N. Velagaleti, Bill A. Rampy

Publikováno v: Genetic Testing. 7:219-223

Pallister-Killian syndrome (PKS), a rare disorder, is characterized by tissue-limited or tissue-specific mosaicism. The characteristic chromosome abnormality associated with PKS is i(12p), which is seen predominantly in skin fibroblast cultures. Diag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec6e7a73cce1f8ff2084c4358f205325
https://doi.org/10.1089/109065703322537232

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Prenatal Diagnosis of a Fetus with Unbalanced Translocation (4;13)(p16;q32) with Overlapping Features of Patau and Wolf-Hirschhorn Syndromes

Autor: Shuliu Zhang, Jill K. Tapper, Gopalrao V.N. Velagaleti, Lillian H. Lockhart, Hassan Harirah, Alfredo B. Gei, Linda S. Merryman, Judy C. Hawkins, Neli I. Panova

Publikováno v: Fetal Diagnosis and Therapy. 17:347-351

Wolf-Hirschhorn syndrome (WHS) and Patau syndrome are two of the most severe conditions resulting from chromosome abnormalities. WHS is caused by a deletion of 4p16, while Patau syndrome is caused by trisomy for some or all regions of chromosome 13.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a26a00864339e606f5c7b8b13fd502a
https://doi.org/10.1159/000065383

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Cytogenetic findings in a case of nodular fasciitis of subclavicular region

Autor: Markku Miettinen, Zoran Gatalica, Gopalrao V.N. Velagaleti, Neli E. Panova, Jill K. Tapper

Publikováno v: Cancer genetics and cytogenetics. 141(2)

We report a case of nodular fasciitis with a reciprocal translocation involving both homologues of chromosome 15 [46,XX,t(15;15)(q13;q25)]. This is the third case of nodular fasciitis with involvement of chromosome 15. Two genes that are involved in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40d6efdafea1a663c205590d4ca35e8b
https://pubmed.ncbi.nlm.nih.gov/12606136

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Subject Index Vol. 17, 2002

Autor: Yaron Sapir, Melissa A. Ayoub, Baruch Feldman, A.A. Baschat, Tomoaki Taguchi, Yuval Yaron, Takayoshi Hosono, Gopalrao V.N. Velagaleti, Alex G. Shalhoub, C. Hubinont, Paulo Roberto Valente, Yifat Ochshorn, Linda S. Merryman, Josip Djelmis, Cláudio L. Pelarigo, Marina Ivanišević, J. Smrcek, Denise Araújo Lapa Pedreira, M. Van Ranst, A. Geipel, Sachiyo Suita, Lilian M. Silva, Jill K. Tapper, P. Bernard, U. Gembruch, Shuliu Zhang, Saul Goldenberg, Alfredo B. Gei, Sigal Heifetz, U. Germer, Shoji Satoh, Avi Orr-Urtreger, C. Berg, Véronique Mirlesse, Toshiyuki Yoshizato, Akihiko Kandori, Ronaldo Levy, Hitoo Nakano, Hassan Harirah, Takeshi Kanagawa, Lillian H. Lockhart, Rogério C. Abou-Jamra, Jasna Čerkez Habek, P. Goubau, Yoshihide Chiba, Ofer Lehavi, François Jacquemard, Ronald J. Wapner, Dubravko Habek, Neli I. Panova, M. Bodéus, Judy C. Hawkins, Fernand Daffos, Mark P. Johnson, Keiji Tsukada, M. Krapp, Mark I. Evans

Publikováno v: Fetal Diagnosis and Therapy. 17:379-380

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::971eabb6a6245233437e627e47f86053
https://doi.org/10.1159/000067059

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Contents Vol. 17, 2002

Autor: C. Hubinont, Paulo Roberto Valente, Yifat Ochshorn, Yoshihide Chiba, Ronald J. Wapner, Shuliu Zhang, Jill K. Tapper, Véronique Mirlesse, Akihiko Kandori, Ronaldo Levy, Ofer Lehavi, François Jacquemard, U. Gembruch, Alex G. Shalhoub, A.A. Baschat, M. Krapp, Toshiyuki Yoshizato, P. Bernard, Yaron Sapir, Mark I. Evans, Judy C. Hawkins, Denise Araújo Lapa Pedreira, Cláudio L. Pelarigo, Jasna Čerkez Habek, Mark P. Johnson, Josip Djelmis, U. Germer, Avi Orr-Urtreger, M. Van Ranst, P. Goubau, Keiji Tsukada, Alfredo B. Gei, Sachiyo Suita, Gopalrao V.N. Velagaleti, Shoji Satoh, M. Bodéus, Marina Ivanišević, Lillian H. Lockhart, Baruch Feldman, C. Berg, Tomoaki Taguchi, Sigal Heifetz, Rogério C. Abou-Jamra, Yuval Yaron, Hassan Harirah, Melissa A. Ayoub, Hitoo Nakano, Takayoshi Hosono, Linda S. Merryman, Fernand Daffos, Dubravko Habek, J. Smrcek, Neli I. Panova, A. Geipel, Lilian M. Silva, Saul Goldenberg, Takeshi Kanagawa

Publikováno v: Fetal Diagnosis and Therapy. 17:381-382

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1b4fcc6b3b8fd7a8707e9d32cbe741c2
https://doi.org/10.1159/000067060

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Akademický článek

A Rapid and Noninvasive Method for Detecting Tissue-Limited Mosaicism: Detection of i(12)(p10) in Buccal Smear from a Child with Pallister-Killian Syndrome.

Autor: Gopalrao V. N. Velagaleti, Jill K. Tapper, Bill A. Rampy, Shuliu Zhang, Judy C. Hawkins, Lillian H. Lockhart

Publikováno v: Genetic Testing; 9/01/2003, Vol. 7 Issue 3, p219-223, 5p

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