Zobrazeno 1 - 10
of 109
pro vyhledávání: '"H, Punnett"'
Autor:
Beverly S. Emanuel, Daniel L. Van Dyke, Athena M. Cherry, Maximillian Muenke, Laird G. Jackson, Cynthia C. Morton, Roger E. Stevenson, H. Eugene Hoyme, Uta Francke, Frederick R. Bieber, Cynthia M. Powell, P. Nagesh Rao, Stuart Schwartz, Hope H. Punnett
Publikováno v:
Genetics in Medicine. 19:294-296
Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8295f9cfc4e6644a2adc4439292b9c8
https://doi.org/10.1038/gim.2016.171
https://doi.org/10.1038/gim.2016.171
Autor:
Carol E. Anderson, Mark R. Sterner, Hope H. Punnett, Jinglan Liu, Reena Jethva, Folasade Kehinde, Adina R. Glick, Judy Mae Pascasio, Mohammed A. Wahab, Jane E. McGowan
Publikováno v:
American Journal of Medical Genetics Part A. 164:3187-3193
Trisomy 22 is the third most common autosomal trisomy occurring in about 0.4% of all clinically recognized pregnancies. Complete non-mosaic trisomy 22 is extremely rare in live births. Most affected children die before one year of age. To date, only
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd596975c46b2f51fea42dee3363f270
https://doi.org/10.1002/ajmg.a.36778
https://doi.org/10.1002/ajmg.a.36778
Autor:
Jinglan Liu, John E. Hauptman, Matthew Keisling, Jean-Pierre de Chadarévian, Miguel A. Guzman, Gregory E. Halligan, Dilipkumar M Patel, Hope H. Punnett, Steve J Hou, Donna M Pezanowski, Peter Papenhausen, Judy Mae Pascasio
Publikováno v:
Modern Pathology. 24:1327-1335
Rhabdomyosarcoma is the most common pediatric soft tissue malignancy. Two major subtypes, alveolar rhabdomyosarcoma and embryonal rhabdomyosarcoma, constitute 20 and 60% of all cases, respectively. Approximately 80% of alveolar rhabdomyosarcoma carry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e68afdc6fb486c05995b178c6f1e8e7b
https://doi.org/10.1038/modpathol.2011.98
https://doi.org/10.1038/modpathol.2011.98
Autor:
J.P. de Chadarévian, Jennifer J.D. Morrissette, Hope H. Punnett, Felicula Guerrero, Ann Shoemaker McKenzie, Gregory E. Halligan
Publikováno v:
Cancer Genetics and Cytogenetics. 169:58-61
We describe the rare finding of a 33-month-old child neonatally diagnosed with Down syndrome, who presented with pre-B acute lymphoblastic leukemia (ALL) with a pretreatment bone marrow karyotype in which a low hypodiploid cell line (38 chromosomes)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bf2f5fa48c19bf186c4ce2ae5ab49d8
https://doi.org/10.1016/j.cancergencyto.2006.02.007
https://doi.org/10.1016/j.cancergencyto.2006.02.007
Publikováno v:
American Journal of Medical Genetics Part A. :52-55
This is a report of a trisomy 18 patient who developed Wilms tumor in conjunction with perilobar nephroblastomatosis (NB) at 9 years and 5 months of age. Review of the literature revealed that most patients with trisomy 18 who develop Wilms tumor, do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b6018deda1b3a2d1a103540248a9efa2
https://doi.org/10.1002/ajmg.a.20141
https://doi.org/10.1002/ajmg.a.20141
Autor:
Bruce R. Pawel, Sandy S. Wu, Hope H. Punnett, Daniel H. Conway, Xiang Y. Han, Rick A. Martin, Jean-Pierre de Chadarévian
Publikováno v:
American Journal of Medical Genetics. 90:45-48
An infant girl of 36 weeks gestational age was found to have cardiovascular and other lethal internal anomalies in addition to characteristic external abnormalities of focal dermal hypoplasia (Goltz syndrome). The internal anomalies included truncus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9941bf65699909d1c81d22c0afe3488d
https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<45::aid-ajmg9>3.0.co
https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<45::aid-ajmg9>3.0.co
Autor:
Frank E. Shafer, Hope H. Punnett, J.P. de Chadarévian, Carol E. Anderson, S. Lauren Gray, Jennifer J.D. Morrissette
Publikováno v:
Pediatric Blood & Cancer. 52:650-652
We report the unique association of variable constitutional mosaicism 46,X, i(X)(p10)/46,XX with recurrent thrombocytopenia in a child with failure to thrive and apnea in infancy. Her bone marrow had equal distribution of the normal and abnormal cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ec6bb584523c3ab3a93513f46358ef3
https://doi.org/10.1002/pbc.21890
https://doi.org/10.1002/pbc.21890
Autor:
Hope H. Punnett, JoAnn Bergoffen, Arthur J. Ross, Elaine H. Zackai, Eduardo Ruchelli, Tamberly J. Campbell
Publikováno v:
The Journal of Pediatrics. 122:603-606
Twelve infants with diaphragmatic hernias plus other anomalies who had mosaicism for tetrasomy isochromosome 12p (Pallister-Killian syndrome) are reviewed. A newborn infant with a diaphragmatic hernia plus dysmorphic features and a normal peripheral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69db433bd33e9c2c5b1b57b2e9cb660f
https://doi.org/10.1016/s0022-3476(05)83546-2
https://doi.org/10.1016/s0022-3476(05)83546-2
Publikováno v:
Medical and Pediatric Oncology. 35:137-139
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0dda90598388d6bb583975c01ef80a1e
https://doi.org/10.1002/1096-911x(200008)35:2<137::aid-mpo12>3.0.co
https://doi.org/10.1002/1096-911x(200008)35:2<137::aid-mpo12>3.0.co
Autor:
Sandra Gendler, P. Michael Conneally, Hope H. Punnett, Marcia M. Shull, Joop Wiegant, Jeff Hall, Orest Hurko, Lee A. Anderson, Norman Latov, Thomas D. Bird, Robert E. Lovelace, Phillip F. Chance, James A. Trofatter, Mary Claire King, Steven A. Schonberg, Mitchell S. Golbus, Peter J. Dyck, Paul Dazin, Zharong Jiang, Ma. Theresa Redila-Flores, Roger V. Lebo, Kevin W. Moore, Eric Lynch
Publikováno v:
Human Genetics. 88:1-12
The Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy) loci have been reported to be on at least three chromosomes: 1 (CMT1B, HMSN1B), 17 (CMT1A), and X (CMTX). In this study multipoint linkage analysis of two Duffy-linked families
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96fe222eae3cc87599a7c6bfcd49ce60
https://doi.org/10.1007/bf00204921
https://doi.org/10.1007/bf00204921