Zobrazeno 1 - 10
of 92
pro vyhledávání: '"Jerome L. Gorski"'
Autor:
Noeline Nadarajah, Mark D. Kilby, Maja Hempel, Stephanie E. Vallee, Silvia Martin-Almedina, Rhiannon Mellis, Dionysios Grigoriadis, Sarah Robart, Sahar Mansour, Mary Beth Dinulos, Ege Sackey, Giles Atton, Wolf-Henning Becker, Christina Karapouliou, Kazim Ogmen, Fanny Kortuem, Katherine S. Josephs, Gunnar Houge, Cathrine Ebbing, Pia Ostergaard, Kristiana Gordon, Steve Jeffery, Peter S. Mortimer, Jerome L. Gorski, Axel von der Wense, Alexandra Robinson, Cassandra Polun, Siren Berland, Jenny Lord, Hallvard Reigstad, Sherri J. Bale
Publikováno v:
Genetics in Medicine
PurposeSeveral clinical phenotypes including fetal hydrops, central conducting lymphatic anomaly or capillary malformations with arteriovenous malformations 2 (CM-AVM2) have been associated with EPHB4 (Ephrin type B receptor 4) variants, demanding ne
Autor:
Silvia Martin-Almedina, Kazim Ogmen, Ege Sackey, Dionysios Grigoriadis, Christina Karapouliou, Noeline Nadarajah, Cathrine Ebbing, Jenny Lord, Rhiannon Mellis, Fanny Kortuem, Mary Beth Dinulos, Cassandra Polun, Sherri Bale, Giles Atton, Alexandra Robinson, Hallvard Reigstad, Gunnar Houge, Axel von der Wense, Wolf-Henning Becker, Steve Jeffery, Peter S. Mortimer, Kristiana Gordon, Katherine S. Josephs, Sarah Robart, Mark D. Kilby, Stephanie Vallee, Jerome L. Gorski, Maja Hempel, Siren Berland, Sahar Mansour, Pia Ostergaard
Publikováno v:
Genetics in Medicine. 23:1376-1377
Autor:
Carla Rosenberg, Susan Price, Angela Maria Vianna-Morgante, Johanna Lundin, Tobias Laurell, Agneta Nordenskjöld, Ann Nordgren, Britt-Marie Anderlid, Ana Cristina Victorino Krepischi, Giedre Grigelioniene, Samantha J. L. Knight, Peter D. Turnpenny, Jerome L. Gorski
Deletions involving 17q21-q24 have been identified previously to result in two clinically recognizable contiguous gene deletion syndromes: 17q21.31 and 17q23.1-q23.2 microdeletion syndromes. Although deletions involving 17q22 have been reported in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54ab528f5f1c78fd18190f4626f64116
https://ora.ox.ac.uk/objects/uuid:da7bff4c-9c5f-4f8b-9f87-09ac7a221039
https://ora.ox.ac.uk/objects/uuid:da7bff4c-9c5f-4f8b-9f87-09ac7a221039
Autor:
Jerome L. Gorski
Publikováno v:
Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::40f781be6082379152cf443da11d7ac4
https://doi.org/10.1093/med/9780199934522.003.0180
https://doi.org/10.1093/med/9780199934522.003.0180
Autor:
T.A. Smolarek, Jerome L. Gorski, Y. Senturias, M. Frydman, Blake C. Ballif, Jill A. Rosenfeld, Jay W. Ellison, D. Earl, Robin Troxell, B. Torchia, Karen D. Tsuchiya, Roger A. Schultz, M. Westemeyer, Brad Angle, Lisa G. Shaffer, S. Zimmerman, Katherine H. Kim
Publikováno v:
Molecular Syndromology. 3:247-254
Microduplications of the Sotos syndrome region containing NSD1 on 5q35 have recently been proposed to cause a syndrome of microcephaly, short stature and developmental delay. To further characterize this emerging syndrome, we report the clinical deta
Publikováno v:
The Cleft Palate-Craniofacial Journal. 48:631-635
Isolated, premature fusion of the frontosphenoidal suture is rare. This report describes an unusual combination of frontosphenoidal craniosynostosis and achondroplasia. Although craniosynostosis is known to occur in allelic conditions such as thanato
Autor:
Dawn Peck, Carolyn Stady Anderson, Judith E Livingston, Dorothy K. Grange, Celia I. Kaye, Maura Taylor, Bradford L. Therrell, Jerome L. Gorski, Sharmini Rogers, Marie Y. Mann, Katherine M. Christensen, Margy Roberston
Publikováno v:
Journal of Community Genetics. 2:191-200
To determine how US newborn dried bloodspot screening (NDBS) programs obtain patient-level data on clinical genetic counseling services offered to families of newborns identified through newborn NDBS and the extent to which newborns and their familie
Autor:
Beatrice N. French, Blake C. Ballif, Jill A. Rosenfeld, Santhosh Girirajan, Eric Haan, Jennifer Kussmann, Shane McCarthy, Valerie Banks, Darren Farber, Carl Baker, John B. Moeschler, Alisha Biser, Kathryn Platky, Bhuwan P. Garg, Jonathan Sebat, Rosemarie Smith, Donna M. McDonald-McGinn, Brian L. Browning, Joe J. Hoo, Jennifer Dickerson, Jillian R Ozmore, Yves Lacassie, Urvashi Surti, Luis F. Escobar, Dima El-Khechen, Andy Itsara, Marie T. McDonald, Corrado Romano, Gregory M. Cooper, David D. Weaver, Bonnie A. Salbert, Wendy E. Smith, Tamim H. Shaikh, Lisa G. Shaffer, Paul R. Mark, Sara Ellingwood, Francesca Antonacci, Jeffrey M. Kidd, Alexander Asamoah, Evan E. Eichler, Cindy Hudson, Marco Fichera, Lynn E. DeLisi, Gordon C. Gowans, Jessica J. Wetherbee, Jozef Gecz, Mary Claire King, Elaine H. Zackai, Jerome L. Gorski, Priscillia Siswara, John P. Johnson, Kathryn Friend, Matthew A. Deardorff, Laura Vives, Deborah L. Levy, Sharon R. Browning, Diane E. Dickel, Heather C Mefford, Tom Walsh
Publikováno v:
Nature genetics, vol 42, iss 3
Girirajan, S; Rosenfeld, JA; Cooper, GM; Antonacci, F; Siswara, P; Itsara, A; et al.(2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42(3), 203-209. doi: 10.1038/ng.534. Lawrence Berkeley National Laboratory: Retrieved from: http://www.escholarship.org/uc/item/89w1x55x
Nature genetics
Girirajan, S; Rosenfeld, JA; Cooper, GM; Antonacci, F; Siswara, P; Itsara, A; et al.(2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42(3), 203-209. doi: 10.1038/ng.534. Lawrence Berkeley National Laboratory: Retrieved from: http://www.escholarship.org/uc/item/89w1x55x
Nature genetics
We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.0009, OR = 7.2) and replicated in a
Autor:
Stefania Mariggiò, Jerome L. Gorski, Roman S. Polishchuk, Mariagrazia Capestrano, Alessio Di Pentima, Mikhail V. Egorov, Anastasia V. Egorova, Roberto Buccione, Stefano Tete, Olesya A. Vorontsova, Alberto Luini, M. Inmaculada Ayala
Publikováno v:
Molecular Biology of the Cell. 20:2413-2427
Mutations in the FGD1 gene are responsible for the X-linked disorder known as faciogenital dysplasia (FGDY). FGD1 encodes a guanine nucleotide exchange factor that specifically activates the GTPase Cdc42. In turn, Cdc42 is an important regulator of m
Autor:
Blake C. Ballif, Maria Descartes, Joyce E. Fox, J. Britt Ravnan, Tracy Stroud, Sheila J. Upton, Jerome L. Gorski, Fallon Brewer, Nicholas J. Neill, Jill A. Rosenfeld, Lisa G. Shaffer, John B. Moeschler, Allen N. Lamb, Berrin Monteleone
Publikováno v:
American journal of medical genetics. Part A. (2)
Uniparental disomy (UPD) for imprinted chromosomes can cause abnormal phenotypes due to absent or overexpression of imprinted genes. UPD(14)pat causes a unique constellation of features including thoracic skeletal anomalies, polyhydramnios, placentom