Zobrazeno 1 - 10
of 17
pro vyhledávání: '"D. M. McDonald‐McGinn"'
Autor:
L. K. White, T. B. Crowley, B. Finucane, S. Garcia‐Minaur, G. M. Repetto, M. van den Bree, M. Fischer, S. Jacquemont, R. Barzilay, A. M. Maillard, K. A. Donald, R. E. Gur, A. S. Bassett, A. Swillen, D. M. McDonald‐McGinn
Publikováno v:
J Intellect Disabil Res
Background\udThe world has suffered immeasurably during the COVID-19 pandemic. Increased distress and mental and medical health concerns are collateral consequences to the disease itself. The Genes to Mental Health (G2MH) Network consortium sought to
Autor:
Carrie E. Bearden, Marianne Bernadette van den Bree, Samuel J.R.A. Chawner, Leila Kushan, Louise Gallagher, Jeremy Hall, Wendy R. Kates, Kevin M. Antshel, Joanne L. Doherty, Judith S Miller, Caitlin C. Clements, Hayley Moss, Goran Cuturilo, A. Maillard, Raquel E. Gur, Sarah R Curran, LeeAnne Green-Snyder, Tara L. Wenger, Wendy K Chung, Michael J Owen, Richard Anney, Jacob Vorstman, Robert T. Schultz, Milica Pejovic-Milovancevic, Robin P. Goin-Kochel, Sébastien Jacquemont, Ellen Hanson, D M McDonald-McGinn, Raphael Bernier, Marina Mihaljevic, Ania M Fiksinski
Objective: Certain copy number variants (CNVs) greatly increase the risk of autism. The authors conducted a genetics-first study to investigate whether heterogeneity in the clinical presentation of autism is underpinned by specific genotype-phenotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2a71567fba7bdaac36b3b97eefed4c8
Publikováno v:
Clinical genetics. 66(1)
At 6 years of age, a boy with bilateral sensorineural deafness, lateral displacement of inner canthi, a bulbous nasal tip, synophrys, and cryptorchidism was clinically diagnosed as having Waardenburg's syndrome type I (WS-1). In addition, he had a lu
Autor:
M, Gerdes, C, Solot, P P, Wang, E, Moss, D, LaRossa, P, Randall, E, Goldmuntz, B J, Clark, D A, Driscoll, A, Jawad, B S, Emanuel, D M, McDonald-McGinn, M L, Batshaw, E H, Zackai
Publikováno v:
American journal of medical genetics. 85(2)
A microscopic deletion of chromosome 22q11.2 has been identified in most patients with the DiGeorge, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies. This study presents t
Publikováno v:
American journal of medical genetics. 82(5)
A male patient with aphallia, anal stenosis, tetralogy of Fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aph
Publikováno v:
American journal of medical genetics. 82(2)
The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B): 13-63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought to be a rare autosomal recessive condition, which, in some patients, presents wit
Autor:
K W, Gripp, C A, Stolle, D M, McDonald-McGinn, R I, Markowitz, S P, Bartlett, J A, Katowitz, M, Muenke, E H, Zackai
Publikováno v:
American journal of medical genetics. 78(4)
We present a patient with pansynostosis, hydrocephalus, seizures, extreme proptosis with luxation of the eyes out of the lids, apnea and airway obstruction, intestinal non-rotation, and severe developmental delay. His skeletal abnormalities include b
Autor:
K E, Sullivan, A F, Jawad, P, Randall, D A, Driscoll, B S, Emanuel, D M, McDonald-McGinn, E H, Zackai
Publikováno v:
Clinical immunology and immunopathology. 86(2)
Monosomic deletions of chromosome 22q11.2 are the leading cause of DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome. DiGeorge syndrome was originally described as an immunodeficiency disorder secondary to impaired T
Publikováno v:
American journal of medical genetics. 73(4)
We report on a fetus with tetramelic campomelia, polysplenia, multicystic dysplastic kidneys, and cervical lymphocele. This condition is similar to the autosomal recessive condition described by Cumming et al. [1986: Am J Med Genet 25:783-790] and is
Autor:
J E, Ming, D M, McDonald-McGinn, T E, Megerian, D A, Driscoll, E R, Elias, B M, Russell, M, Irons, B S, Emanuel, R I, Markowitz, E H, Zackai
Publikováno v:
American journal of medical genetics. 72(2)
Skeletal anomalies in patients with a 22q11.2 deletion are reported infrequently. We report the skeletal findings in 108 patients with a 22q11.2 deletion, of whom 37 (36%) had a skeletal anomaly. Twenty-two patients (20%) had anomalies of the limbs,