Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Stephanie E. Vallee"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d85bb601a79f9c38fc8b3b3bf5d3e3c5
https://doi.org/10.1038/s41436-021-01136-7
https://doi.org/10.1038/s41436-021-01136-7
Autor:
Mary Beth Dinulos, Stephanie E. Vallee
Publikováno v:
Clinics in Laboratory Medicine. 40:61-67
Direct-to-consumer genetic testing came on the scene 2 decades ago as a means for allowing consumers to access their genetic information without the involvement of a physician or genetic counselor. Results are delivered directly to the consumer, ofte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf1d9ded840539a945367c226c0b913c
https://doi.org/10.1016/j.cll.2019.11.003
https://doi.org/10.1016/j.cll.2019.11.003
Autor:
Carey McDougall, Angela Peron, Lauren B. Carter, Thomas P. Slavin, Lynne M. Bird, Mary Beth Dinulos, Cathy A. Stevens, Ian A. Glass, Mais Hashem, Melanie A. Manning, Aglaia Vignoli, Elaine H. Zackai, Agatino Battaglia, Stephanie E. Vallee, Athena M. Cherry, Beth Keena, Margaret P. Adam, John M. Graham, Maura R.Z. Ruzhnikov, Leah Dowsett, Fowzan S. Alkuraya, Laurie H. Seaver, Anita E. Beck, Louanne Hudgins
Publikováno v:
Am J Med Genet A
American journal of medical genetics. Part A, vol 179, iss 8
American journal of medical genetics. Part A, vol 179, iss 8
1p36 deletion syndrome is a well-described condition with a recognizable phenotype, including cognitive impairment, seizures, and structural brain anomalies such as periventricular leukomalacia (PVL). In a large series of these individuals by Battagl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::666822da8ce421ba9792ab05c0ea6ac9
https://doi.org/10.1002/ajmg.a.61266
https://doi.org/10.1002/ajmg.a.61266
Autor:
Edward Hughes, Wahab A. Khan, Diana Toledo, Mary Beth Dinulos, Gregory J. Tsongalis, Donald Green, Ethan P. M. LaRochelle, Joel A. Lefferts, Stephanie E. Vallee
Publikováno v:
Molecular Genetics and Metabolism. 132:S232-S233
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f196d23e3f704b5c169e3de59532d034
https://doi.org/10.1016/s1096-7192(21)00442-x
https://doi.org/10.1016/s1096-7192(21)00442-x
Autor:
Szabolcs Szelinger, Dorothy K. Grange, Julie Jurgens, Jing You, Mary Beth Dinulos, Nara Sobreira, Stephanie E. Vallee, David Valle, Ashley L. Siniard, Ryan Richholt, Newell Belnap, Dustin L. Gable, Mary Armanios, Isabelle Schrauwen, Julie Hoover-Fong
Publikováno v:
The American Journal of Human Genetics. 98:909-918
The proteins encoded by TELO2, TTI1, and TTI2 interact to form the TTT complex, a co-chaperone for maturation of the phosphatidylinositol 3-kinase-related protein kinases (PIKKs). Here we report six affected individuals from four families with intell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f1a2ab13ba98bd471d7964122db27ce
https://doi.org/10.1016/j.ajhg.2016.03.014
https://doi.org/10.1016/j.ajhg.2016.03.014
Autor:
Hou-Sung Jung, Gregory J. Tsongalis, Mary Beth Dinulos, Stephanie E. Vallee, Joel A. Lefferts
Publikováno v:
Journal of human genetics. 63(12)
We present a case of a newborn female with multiple anomalies demonstrating that the causes of imprinting disorders rely not only on the parent-of-origin of the chromosomal aberrations, but also the scope of genes contained in the imprinted region. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::746c163eb629f7e75ae87f4daf51eff7
https://pubmed.ncbi.nlm.nih.gov/30232357
https://pubmed.ncbi.nlm.nih.gov/30232357
Autor:
Michael E. Talkowski, Blake C. Ballif, Roger A. Schultz, Patricia I. Bader, Susan Sell, Zheng Fan, James F. Gusella, Debra J Keelean-Fuller, Suneeta Madan-Khetarpal, Loren Mackay-Loder, Deborah Terespolsky, Urvashi Surti, Jill Pouncey, Santhosh Girirajan, Marilyn C. Jones, Bénédicte Héron‐Longe, Ian Blumenthal, Kenneth N. Rosenbaum, Maria Descartes, Jill A. Rosenfeld, Cynthia C. Morton, Evan E. Eichler, Gwen M. Glew, Alain Verloes, Amy Shealy, Sandrine Passemard, Brigitte Benzacken, Cathy A. Stevens, Eva Pipiras, Nicholas J. Neill, Roger L. Ladda, Rocio Moran, Lisa G. Shaffer, John B. Moeschler, Allen N. Lamb, Judith A. Martin, Stephanie E. Vallee, Kent E. Opheim, Juliann Mcconnell, Bertrand Isidor, Andrée Delahaye, Cédric Le Caignec, Shawnia Ryan
Publikováno v:
Human Mutation. 33:728-740
SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04d6ce34aa6fb60ead0a602f177b7a93
https://doi.org/10.1002/humu.22037
https://doi.org/10.1002/humu.22037
Autor:
Linda S. Kennedy, Joel A. Lefferts, Peter Mason, Dean J. Seibert, Gregory J. Tsongalis, Mary Beth Dinulos, Marco Tulio Martinez, Stephanie E. Vallee, Heather B. Steinmetz, Scott A. Turner
Publikováno v:
Case Reports in Clinical Pathology. 2
Objective: Lack of newborn screening, limited access to healthcare, and complex presentation has resulted in gross under-diagnosis of in-born metabolism disorders in many Central American countries. In this study we describe the use of advanced clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45cf497754f55a9cf16e864a7b70c26b
https://doi.org/10.5430/crcp.v2n3p59
https://doi.org/10.5430/crcp.v2n3p59
Autor:
Hou-Sung Jung, Mary Beth Dinulos, Gregory J. Tsongalis, Stephanie E. Vallee, Scott A. Turner, Joel A. Lefferts
Publikováno v:
Cancer Genetics. :40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8266346f5bf013d3c13b1627b024907
https://doi.org/10.1016/j.cancergen.2017.04.025
https://doi.org/10.1016/j.cancergen.2017.04.025
Autor:
Maria Orera, María Ángeles Mori, Elena Vallespín, Chad R. Haldeman-Englert, Alberto Fernández-Jaén, Xia Li, Alberto Plaja, Lani Devaney, María Palomares-Bralo, Alicia Delicado, Rubén Martín-Arenas, Salmo Raskin, Stephanie E. Vallee, Esther Corbacho-Fernández, Rocío Mena, Miguel Del Campo, Jay W. Ellison, Holly Dubbs, Jill A. Rosenfeld, Fernando Santos-Simarro, Sixto García-Miñaur, Sulagna C. Saitta, Lluís Armengol, M. Carmen Crespo, Carlos A. Venegas-Vega, Inmaculada Rueda-Arenas, Jair Tenorio, Victoria E. Fernandez-Montano, Fernando Fernández-Ramírez, Karen W. Gripp, Blanca Marín Fernández, María Luisa de Torres, Pablo Lapunzina, Gordon C. Gowans, Elizabeth Denenberg, Julián Nevado, M Carmen Sanchez-Hombre, Mary Beth Dinulos, Duban B Bénédicte
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Array comparative genomic hybridization (aCGH) is a powerful genetic tool that has enabled the identification of novel imbalances in individuals with intellectual disability (ID), autistic disorders and congenital malformations. Here we report a 'gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acda0a94c6bcf36efa06bb9657b508d7
https://pubmed.ncbi.nlm.nih.gov/25853300
https://pubmed.ncbi.nlm.nih.gov/25853300