Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Maxine J. Sutcliffe"'
Publikováno v:
European Journal of Medical Genetics. 51:54-60
Partial or complete trisomy 5p has been associated with characteristic facial features, developmental delay, seizures, congenital heart defects, and respiratory compromise. We present a child with developmental delay, seizures, and congenital cardiac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40e5baf86de63f158c44cb469efdab49
https://doi.org/10.1016/j.ejmg.2007.09.006
https://doi.org/10.1016/j.ejmg.2007.09.006
Autor:
Doris P. Dumont, Danielle Conforto, Fayaz Mawani, Boris G. Kousseff, Maxine J. Sutcliffe, Julia A. McFarland, Judith D. Ranells, O. Thomas Mueller
Publikováno v:
American Journal of Medical Genetics. 102:192-199
We report on a 3.5-year-old girl with a mosaic karyotype including full trisomy 18, normal cells and a majority of cells with partial trisomy involving an extra chromosome 18 deleted at band q22. She had cardiac and CNS anomalies, dysmorphic facial f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e6b2f152a405f3d228649eb86586a96b
https://doi.org/10.1002/1096-8628(20010801)102:2<192::aid-ajmg1445>3.0.co
https://doi.org/10.1002/1096-8628(20010801)102:2<192::aid-ajmg1445>3.0.co
Autor:
Nanette H. Grana, Maxine J. Sutcliffe, Kenneth R. Washington, Wilfredo Chamizo, Mary M. Haag, Hans-Christoph Rossbach, Jerry L. Barbosa
Publikováno v:
Journal of Pediatric Hematology/Oncology. 20:347-352
Purpose: Myelodysplastic syndromes in children commonly evolve into acute leukemia, usually acute myelogenous leukemia (AML) and rarely acute lymphoblastic leukemia (ALL). The lineage of the leukemia can be predicted based on characteristic morpholog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db1533d8eab92daee3ecf86849fe7939
https://doi.org/10.1097/00043426-199807000-00014
https://doi.org/10.1097/00043426-199807000-00014
Autor:
Maxine J. Sutcliffe, Susan Sheley Romie, James K. Hartsfield, Boris G. Kousseff, Doris P. Dumont
Publikováno v:
American Journal of Medical Genetics. 62:105-108
We report on a girl with a de novo 6q1 interstitial deletion. To our knowledge, this is the second reported case with a deletion of 6q11-q15. We review the phenotype of monosomy 6q1. Our patient has manifestations similar to others with monosomy 6q1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7bd8d593a1dd9eb73fa4036876009672
https://doi.org/10.1002/(sici)1096-8628(19960315)62:2<105::aid-ajmg1>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960315)62:2<105::aid-ajmg1>3.0.co
Autor:
Peter Papenhausen, Theresa M. Diamond, Maxine J. Sutcliffe, Boris G. Kousseff, Virginia P. Johnson, O. T. Mueller
Publikováno v:
American Journal of Medical Genetics. 59:271-275
Uniparental disomy (UPD) of a number of different chromosomes has been found in associated with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating. We report on a case of paternal UP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1fb06fa66fbd4068818cc7bc7d094565
https://doi.org/10.1002/ajmg.1320590302
https://doi.org/10.1002/ajmg.1320590302
Publikováno v:
Molecular Reproduction and Development. 30:81-89
Adult XYSxra mice exhibit varying degrees of spermatogenic deficiency but are usually fertile, while XOSxra mice have severe spermatogenic failure and are always sterile. The present quantitative spermatogenic analysis documents when these anomalies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37dd3fdaea9e44ff43e9764f3824d490
https://doi.org/10.1002/mrd.1080300202
https://doi.org/10.1002/mrd.1080300202
Autor:
Jerry W. Shay, Lawrence C. Pakula, Maxine J. Sutcliffe, Patricia A. Kruk, Richard F. Walker, Jesper Graakjaer
Publikováno v:
Mechanisms of ageing and development. 130(5)
In 1932, Bidder postulated that senescence results from "continued action of a (genetic) regulator (of development) after growth ceases (maturation occurs)." A 16-year-old girl who physically appears to be an infant has not been diagnosed with any kn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3be9d75700c6ec17d1015b2ce7e5c76
https://pubmed.ncbi.nlm.nih.gov/19428454
https://pubmed.ncbi.nlm.nih.gov/19428454
Autor:
Maxine J. Sutcliffe, Hans-Christoph Rossbach, Dana Obzut, Tung Wynn, Cameron K. Tebbi, Dmitry Baschinsky
Publikováno v:
Pediatric bloodcancer. 50(3)
Composite tumors are extremely rare. Such tumors in adrenal glands are usually of neuroendocrine-neural type and occur mostly in adults. Their pathogenesis remains elusive. We report a patient with composite neuroblastoma (NB), adrenocortical tumor (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::270b09247b325b8c1116fbca61c06212
https://pubmed.ncbi.nlm.nih.gov/17427234
https://pubmed.ncbi.nlm.nih.gov/17427234
Autor:
Jerry L. Barbosa, Nanette H. Grana, Anne R. Rossi, Hans-Christoph Rossbach, Maxine J. Sutcliffe, Mary M. Haag
Publikováno v:
American Journal of Medical Genetics. 61:65-67
Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5096b29280af599ddcf50e938f397756
https://doi.org/10.1002/(sici)1096-8628(19960102)61:1<65::aid-ajmg12>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960102)61:1<65::aid-ajmg12>3.0.co
Publikováno v:
Cancer Genetics. 205:423-424
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c34d691aecc4a471d7cfbafcc8bf141
https://doi.org/10.1016/j.cancergen.2012.07.015
https://doi.org/10.1016/j.cancergen.2012.07.015