Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Janice Zunich"'
Publikováno v:
American journal of medical genetics. Part A. 173(6)
Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed an
Autor:
Jacques S. Beckmann, Christelle Golzio, Nicholas Katsanis, Andrew Dauber, Małgorzata J.M. Nowaczyk, Susan Zeesman, Joel N. Hirschhorn, Francine M. Jodelka, Jill A. Rosenfeld, Danielle Martinet, Bruno Leheup, Cécile Guenot, Michelle L. Hastings, Susanne Kjaergaard, Sébastien Jacquemont, Janice Zunich, Maria Kibaek
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 93 (5), pp.798-811. ⟨10.1016/j.ajhg.2013.09.010⟩
Dauber, A, Golzio, C, Guenot, C, Jodelka, F M, Kibæk, M, Kjaergaard, S, Leheup, B, Martinet, D, Nowaczyk, M J M, Rosenfeld, J A, Zeesman, S, Zunich, J, Beckmann, J S, Hirschhorn, J N, Hastings, M L, Jacquemont, S & Katsanis, N 2013, ' SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant ', American Journal of Human Genetics, vol. 93, no. 5, pp. 798-811 . https://doi.org/10.1016/j.ajhg.2013.09.010
American journal of human genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 93 (5), pp.798-811. ⟨10.1016/j.ajhg.2013.09.010⟩
Dauber, A, Golzio, C, Guenot, C, Jodelka, F M, Kibæk, M, Kjaergaard, S, Leheup, B, Martinet, D, Nowaczyk, M J M, Rosenfeld, J A, Zeesman, S, Zunich, J, Beckmann, J S, Hirschhorn, J N, Hastings, M L, Jacquemont, S & Katsanis, N 2013, ' SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant ', American Journal of Human Genetics, vol. 93, no. 5, pp. 798-811 . https://doi.org/10.1016/j.ajhg.2013.09.010
American journal of human genetics
International audience; Copy-number variants (CNVs) represent a significant interpretative challenge, given that each CNV typically affects the dosage of multiple genes. Here we report on five individuals with coloboma, microcephaly, developmental de
Autor:
Sigrid Tinschert, Roy Wiliams, Shruti Bhide, Bobby G. Ng, Ping He, Rhonda E. Schnur, Hudson H. Freeze, Karl Hackmann, Amy S. Paller, Vincent Cantagrel, Janice Zunich, Melanie A. Jones, Joseph G. Gleeson, Madhuri Hegde, Alexey Eroshkin
Publikováno v:
The American Journal of Human Genetics. 90:685-688
CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including conductive hearing loss. Whole-exome sequencing on five previously reported cases identi
Autor:
Cynthia J. Curry, Margarita Raygada, Raoul C.M. Hennekam, Virginia Kimonis, John M. Graham, Alexa Kidd, David J. Amor, Helen Murphy, Annmarie Sommer, Salim Aftimos, Maureen Bocian, Amy Shealy, Michael T. Gabbett, Graeme C.M. Black, Susan Tomkins, Lakshmi Mehta, Bernhard Zabel, Michael Field, Joyce T. Turner, Margot I. Van Allen, Mark J. Stephan, Wendy E. Smith, Sally Ann Lynch, David Tilstra, Janice Zunich, Anne Chun Hui Tsai, Alan F. Rope, Pradeep Vasudevan, Kenneth N. Rosenbaum, Robert J. Hopkin, Julie C. Sapp, Moran Gal, Kyrieckos A. Aleck, Hülya Kayserili, Jennifer J. Johnston, Angela E. Lin, Julie McGaughran, Leslie G. Biesecker, G. Bradley Schaefer, Ruth Day, Joann Bodurtha, Ikuma Fujiwara, Heather J. Stalker, Dian Donnai, Melissa K. Maisenbacher, Peter Hedera, Maria Soller, Sahar Mansour, Nathaniel H. Robin, Joseph H. Hersh, Pamela Trapane, Gerald F. Cox, Bernhard Steiner
Publikováno v:
Human mutation, 31(10), 1142-1154. Wiley-Liss Inc.
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 17
Publikováno v:
American Journal of Medical Genetics Part A. :117-123
An interstitial deletion in the middle and distal part of chromosome 14 is a rare chromosomal abnormality characterized by a wide spectrum of phenotypic manifestations. We present a patient with a nearly 20 Mb interstitial deletion of chromosome 14q2
Autor:
Janice Zunich, John W. Longshore, Flora Tassone, Annette K. Taylor, Peter Steinbach, Ulrike Salat
Publikováno v:
Clinical Genetics. 55:346-352
Methylation of a premutation was found in a small percentage of blood cells in a male premutation carrier for the FMR1 mutation. To investigate the inter-tissue heterogeneity and possible clinical implications of this finding, fibroblast cells from t
Publikováno v:
Journal of Medical Genetics. 32:465-469
A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of four patients reported, it is presumed to be an autosomal recessive disorder because of recurrence in sibs. The main features include ocular colobomas, c
Publikováno v:
Cancer Genetics. 209:247
Autor:
Janice Zunich, Jamie L. Wooldridge
Publikováno v:
American Journal of Medical Genetics. 56:258-264
We report on a 6-year-old boy with mosaic trisomy 9. The patient was born at 42 weeks of gestation to a 27-year-old G1 white woman. Birth weight was 2,820 g, length 52 cm, and Apgar scores were 4 and 6 at 1 and 5 min, respectively. The infant present
Combined pituitary hormone deficiency (CPHD) is characterized by deficiencies in more than one anterior pituitary hormone. Mutations in developmental factors responsible for pituitary cell specification and gene expression have been found in CPHD pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eaf7b2917efd3bbc11c3161d343369c
https://europepmc.org/articles/PMC2582563/
https://europepmc.org/articles/PMC2582563/