Výsledky vyhledávání

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Autor: Mary R. Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza, Lee Salkeld, Saraswati Hosdurga, Michael Parker, Pradeep Vasudevan, Lily Islam, Himanshu Goel, Nicole Bain, Soo‐Mi Park, Shehla Mohammed, Klaus Dieterich, Charles Coutton, Véronique Satre, Gaëlle Vieville, Alan Donaldson, Claire Beneteau, Jamal Ghoumid, Kris Van Den Bogaert, Anneleen Boogaerts, Elise Boudry, Clémence Vanlerberghe, Florence Petit, Laura Bernardini, Barbara Torres, Teresa Mattina, Diana Carli, Giorgia Mandrile, Michele Pinelli, Nicola Brunetti‐Pierri, Katherine Neas, Rachel Beddow, Pernille M. Tørring, Flavio Faletra, Beatrice Spedicati, Paolo Gasparini, Alessandro Mussa, Giovanni Battista Ferrero, Anne Lampe, Wayne Lam, Weimin Bi, Carlos A. Bacino, Akela Kuwahara, Jeffrey O. Bush, Xiaonan Zhao, Pamela N. Luna, Chad A. Shaw, Jill A. Rosenfeld, Daryl A. Scott

Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority of EA/TEF+

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dbf2e7cf7e23b99bd24320dbc96276a
https://hdl.handle.net/11368/3032878

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Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R

Autor: Kati Kuuse, Michael Field, Trent Burgess, Sanna Puusepp, Nicole Bain, Ying Zhu, Katrin Õunap, Olga Žilina, Melanie Leffler

Publikováno v: European Journal of Medical Genetics

Terminal duplications of 15q26.3 are associated with an overgrowth phenotype, distinct facial features and intellectual disability, with the smallest reported microduplication to date being 3.16 Mb in size. We report two familial 15q26.3 microduplica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55dc87b920b2bad276a1dae3fc3d7dcd
https://doi.org/10.1016/j.ejmg.2015.12.002

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An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects

Autor: Himanshu Goel, Cliff Meldrum, Damon Shorter, Nicole Bain, Anupam Rao, Sheridan O'Donnell

Publikováno v: European Journal of Medical Genetics. 57:65-70

Background Chromosome 1p31 deletion (OMIM # 613735 ) involving the NFIA gene (OMIM 600727 ) is characterised by variable defects in the formation of the corpus callosum, craniofacial abnormalities and urinary tract defects. A review of current litera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee821f7b0b033d0c8822853674692414
https://doi.org/10.1016/j.ejmg.2013.12.011

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16p13.11 Microdeletion in a Patient With Hemiconvulsion-Hemiplegia-Epilepsy Syndrome

Autor: R Smith, Gopinath M. Subramanian, Ben Kamien, Christina Miteff, Janis E. Brown, Nicole Bain

Publikováno v: Journal of Child Neurology. 30:83-86

We describe a patient with hemiconvulsion-hemiplegia-epilepsy syndrome. The pathophysiology of hemiconvulsion-hemiplegia-epilepsy syndrome remains uncertain and there are probably multiple potential contributing factors. Our patient had a chromosomal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2814f961919eafa7cd6d66a67b34fe4
https://doi.org/10.1177/0883073813516382

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Elektronická kniha

Juvenile Justice and Juvenile Delinquency : Case Studies Workbook

Autor: James Windell, Nicole Bain

Designed as a supplemental text for juvenile delinquency and juvenile justice courses, this workbook fills a void in current textbooks. It provides a hands-on experience that helps students understand the kinds of court hearings that take place in ju

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FOXP1 mutations cause intellectual disability and a recognizable phenotype

Autor: Jozef Gecz, Denise Horn, Sherindan O'Donnell, Marie Shaw, Neva H. Malek, Nicole Bain, Kerry Fagan, Trent Burgess, Christopher W. Carr, Anna K. Le Fevre, Sharelle Taylor, Omar A. Abdul-Rahman, Matthew F. Hunter

Publikováno v: American Journal of Medical Genetics Part A. 161:3166-3175

Mutations in FOXP1, located at 3p13, have been reported in patients with global developmental delay (GDD), intellectual disability (ID), and speech defects. Mutations in FOXP2, located at 7q31, are well known to cause developmental speech and languag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8a25143d5ebeec8d8e25b8daf360dd0
https://doi.org/10.1002/ajmg.a.36174

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Weight and muscularity concerns as longitudinal predictors of body image among early adolescent boys: A test of the dual pathways model

Autor: Stephanie King, Nicole Bain, Diane Carlson Jones

Publikováno v: Body Image. 5:195-204

The purpose of this research was to examine the longitudinal contributions of weight loss and muscularity concerns as dual pathways to body image dissatisfaction among early adolescent boys. Study 1 included 67 boys who reported on weight loss concer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73d0e978440025adb532341b81b81bb6
https://doi.org/10.1016/j.bodyim.2007.12.001

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