Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Carol A. Crowe"'
Autor:
Carlos Ferreira, Tommy Hu, Monisha S. Kisling, Holly Dubbs, Vorasuk Shotelersuk, Lynne M. Bird, Danilo Moretti-Ferreira, Kisha D. Johnson, Kate Clarkson, Paul W.K. Wong, Carol A. Crowe, André Mégarbané, Paul Kruszka, Shubha R. Phadke, Ambroise Wonkam, Victoria Mok Siu, Nirmala D. Sirisena, David B. Everman, Ian D. Krantz, Marie T. McDonald, Elizabeth Roeder, Eyby Leon, Usha Pinakin Dave, E.V. Badoe, Antonie D. Kline, Katta M. Girisha, Leah Dowsett, Maximilian Muenke, Fuki M. Hisama, Kwame Anyane-Yeoba, Antonio R. Porras, Cedrik Tekendo-Ngongang, Meow-Keong Thong, Naoki Hamajima, Pranoot Tanpaiboon, Annette Uwineza, Brandon Davis, Sarah E. Raible, Shalini S. Nayak, Maninder Kaur, Vajira H. W. Dissanayake, Leticia Cassimiro Batista, Jessica Worthington, Matthew A. Deardorff, Eloise J. Prijoles, Virginia Kimonis, Louanne Hudgins, Anju Shukla, Roger E. Stevenson, Karen Fieggen, Greta Gillies, Laird G. Jackson, Leon Mutesa, Engela Honey, Zornitza Stark, Ann Ades, Sulgana Saitta, Robin D. Clark, Marius George Linguraru, Marshall L. Summar, Laurie A. Demmer, Diane Masser-Frye, Patrick Willems, Emanuela Salzano, Stavit A. Shalev
Publikováno v:
American Journal of Medical Genetics Part A. 179:150-158
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ccbf12bd40a1dec434611422057ad4d
https://doi.org/10.1002/ajmg.a.61033
https://doi.org/10.1002/ajmg.a.61033
Autor:
Dennis M. Super, Ravi Ashwath, Robert C. Bahler, Irwin B. Jacobs, Mahi L. Ashwath, Carol A. Crowe
Publikováno v:
The American Journal of Cardiology. 114:284-289
Prognosis in patients with Duchenne muscular dystrophy (DMD) is guarded and most deaths are due to cardiac or respiratory causes. It is unclear if some DMD gene mutations might be predictive of either mild or severe cardiac dysfunction. We studied 75
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4017f4a910be76c11e0cb81860a7788d
https://doi.org/10.1016/j.amjcard.2014.04.038
https://doi.org/10.1016/j.amjcard.2014.04.038
Autor:
Noam Lazebnik, Jaime Vengoechea, Ian D. Krantz, Leslie Cohen, Carol A. Crowe, Małgorzata J.M. Nowaczyk, Maninder Kaur, Dinah Clark, Jane E. Corteville, Janice L. B. Byrne, Laird G. Jackson, Thomas P. Slavin, Laura Konczal
Publikováno v:
American Journal of Medical Genetics Part A. :1481-1485
Cornelia de Lange syndrome (CdLS) is a genetic disorder associated with delayed growth, intellectual disability, limb reduction defects, and characteristic facial features. Germline mosaicism has been a described mechanism for CdLS when there are sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b02ed28e9cb37d61f33ed2e4763ab4a
https://doi.org/10.1002/ajmg.a.35381
https://doi.org/10.1002/ajmg.a.35381
Autor:
Charlotte A. Brown, Carol A. Crowe, Ora Gordon, Carla Grosmann, Viola F. Gnocchi, Ismail A. Khatri, Matthew Bower, Erynn S. Gordon, Kevin J. Felice, Alexander Asamoah, Juliet A. Ellis, Peter S. Zammit, Diana M. Escolar, Susan T. Iannaccone, Matthew N. Meriggioli, Jerry R. Mendell, Juergen Scharner
Publikováno v:
Human Mutation; Vol 32
Mutations in LMNA cause a variety of diseases affecting striated muscle including autosomal Emery-Dreifuss muscular dystrophy (EDMD), LMNA-associated congenital muscular dystrophy (L-CMD), and limb-girdle muscular dystrophy type 1B (LGMD1B). Here, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02cd8021a1d046e99291ae8e80a45ecb
https://doi.org/10.1002/humu.21361
https://doi.org/10.1002/humu.21361
Autor:
Angus Dobbie, S.P.A. Rigden, Carol A. Crowe, Ian M. Holdaway, Asif Ali, Rajesh V. Thakker, Michael A. Levine, Brian Harding, Julian R. Sampson, Robert R. McWilliams, Andrew J Williams, Michael R. Bowl, Geeta Hampson, M. Andrew Nesbit, Alejandro Ayala
Publikováno v:
Europe PubMed Central
The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. The C-terminal zinc finger (ZnF2) binds DNA, whereas the N-terminal finger
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::309b5c507e184e29640ea863c44f7774
https://doi.org/10.1074/jbc.m401797200
https://doi.org/10.1074/jbc.m401797200
Publikováno v:
American Journal of Medical Genetics. :72-75
We report a patient with bilateral microphthalmia with cyst, limb anomalies, and multiple facial malformations. This patient has clinical features similar to Waardenburg ophthalmo-acromelic syndrome, cerebro-oculo-nasal syndrome, and craniotelencepha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98fb521541e601b6bd703a7f128610bb
https://doi.org/10.1002/ajmg.a.10154
https://doi.org/10.1002/ajmg.a.10154
Autor:
Dimitri Agamanolis, Cornelius F. Boerkoel, Ken Inoue, Joram Sawady, Carol A. Crowe, James R. Lupski, Konstantin Shilo
Publikováno v:
Annals of Neurology. 52:836-842
A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neuropathy and central dysmyelination has been recognized recently in association with SOX10 mutations. We report an infant boy with lethal congenital hypomyelinat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bfd91088bb417b2ce7837345ac7cff5
https://doi.org/10.1002/ana.10404
https://doi.org/10.1002/ana.10404
Autor:
Kimberly Q. McKinney, Takeshi Sasaki, Ann R. Salvino, Peter Heydemann, Oksana Suchowersky, Jerry R. Mendell, David A. Simpson, J. Edward Spence, Carol A. Crowe, Cheryl R. Greenberg, Basil T. Darras, Carla Grosmann, Frederick Shapiro, Robert W. Lanning, Elizabeth M. Cherniske, Charlotte A. Brown, Barbara R. Pober, Stasha Gominak
Publikováno v:
American Journal of Medical Genetics. 102:359-367
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by slowly progressive muscle wasting and weakness; early contractures of the elbows, Achilles tendons, and spine; and cardiomyopathy associated with cardiac conduction defects. Clinically indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bae4620f12774db42b4b60b7f0e8da61
https://doi.org/10.1002/ajmg.1463
https://doi.org/10.1002/ajmg.1463
Publikováno v:
The American Journal of Human Genetics. 65:1387-1395
The clinical features of the 9p-deletion syndrome include dysmorphic facial features (trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures, and a long philtrum) and mental retardation. The majority of these patients appear to have s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5935927cfceb03e2fdeaf99ccec8ff2a
https://doi.org/10.1086/302606
https://doi.org/10.1086/302606
Autor:
David H. Ledbetter, William B. Dobyns, Carol A. Crowe, Toni I. Pollin, Ann C.M. Smith, Joan E. Bailey-Wilson
Publikováno v:
American Journal of Medical Genetics. 85:369-375
We studied the pedigrees of 14 families segregating a reciprocal translocation with one breakpoint in chromosome 17p13 and the other in the distal region of another autosome. All 14 were ascertained on the basis of an affected index case: 13 had Mill
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b710539d4b7ae645629437532911a63
https://doi.org/10.1002/(sici)1096-8628(19990806)85:4<369::aid-ajmg13>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990806)85:4<369::aid-ajmg13>3.0.co