Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Judy C. Hawkins"'
Autor:
Judy C. Hawkins, Lillian H. Lockhart, Reuben Matalon, Gopalrao V.N. Velagaleti, Jill K. Northup
Publikováno v:
European Journal of Medical Genetics. 54:e394-e398
Complex chromosome rearrangements (CCRs) are structural abnormalities involving >2 chromosomes or >3 breakpoints. It has been suggested that the probability of imbalance increases as the number of breakpoints increase. Here we report a 7-month-old, H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbe70c66779b7f2f17a086f3e41f8a02
https://doi.org/10.1016/j.ejmg.2011.03.011
https://doi.org/10.1016/j.ejmg.2011.03.011
Publikováno v:
American Journal of Medical Genetics Part A. :2578-2582
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::116ee3d128a5b5c9876dc41ea4ac6676
https://doi.org/10.1002/ajmg.a.32486
https://doi.org/10.1002/ajmg.a.32486
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
https://doi.org/10.1089/109065703322537232
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
https://doi.org/10.1159/000065383
Autor:
Judy C. Hawkins
Publikováno v:
Journal of Genetic Counseling. 12:91-93
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0de8f82f97acd28f765cd63025b3e0ba
https://doi.org/10.1023/a:1021455503627
https://doi.org/10.1023/a:1021455503627
Publikováno v:
Clinical dysmorphology. 19(4)
Goldenhar syndrome, also called hemifacial microsomia or oculo-auriculo-verterbal dysplasia (OAVS) (MIM 164210), is a birth defect involving the first and second branchial arch derivatives with an incidence of 1/5000. The variable phenotype includes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50a3227a41cc71b883b90b13a63878e5
https://pubmed.ncbi.nlm.nih.gov/20571379
https://pubmed.ncbi.nlm.nih.gov/20571379
Publikováno v:
Indian journal of pediatrics. 75(9)
Partial trisomy 7p with partial monosomy 9p is a rare disorder with only 3 cases reported. Both these abnormalities i.e., partial trisomy 7p and partial monosomy 9p result in distinct clinical phenotypes. However, patients with combined 7p trisomy/9p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c2d458cb3bd29ae53df02a30e41087c
https://pubmed.ncbi.nlm.nih.gov/18568304
https://pubmed.ncbi.nlm.nih.gov/18568304
Autor:
Lillian L Lockhart, Jill K. Northup, Kathleen Griffis, Gopalrao V.N. Velagaleti, Judy C. Hawkins
Publikováno v:
Fertility and sterility. 87(3)
Objective To provide a hypothesis regarding the cause of premature ovarian failure (POF) observed in a 27-year-old with a mosaic dicentric chromosome. Design Case report. Setting Cytogenetics/molecular cytogenetics laboratory in a university hospital
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b5424cbaeab32ee4a4f4ec5cc5fa8e5
https://pubmed.ncbi.nlm.nih.gov/17140574
https://pubmed.ncbi.nlm.nih.gov/17140574
Autor:
Ahn T. Vu, Sankar Surendran, Reuben Matalon, S. K. Tyring, Peter L. Rady, Alla K. Kumar, Joy Merren, Judy C. Hawkins, Kimberlee Michals-Matalon
Publikováno v:
Genetic testing. 6(3)
Sanfilippo A syndrome is an autosomal recessive lysosomal storage disease. This disease was reported in the Cayman Islands population with carrier frequency of 1/7 to 1/10 in the West Bay district of Grand Cayman. The carrier testing of Sanfilippo A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb4759ceeb511195688fb6efb66ba0e3
https://pubmed.ncbi.nlm.nih.gov/12490062
https://pubmed.ncbi.nlm.nih.gov/12490062
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
https://doi.org/10.1159/000067059