Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 5

Results: 27

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 757, doi. 10.1002/ajmg.a.61128
Publication type:: Article

Cover Image, Volume 179A, Number 5, May 2019.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. i, doi. 10.1002/ajmg.a.61129

By:

Shukla, Anju;
Girisha, Katta M.;
Somashekar, Puneeth H.;
Nampoothiri, Sheela;
McClellan, Rebecca;
Vernon, Hilary J.

Publication type:

Article

Variants in the transcriptional corepressor BCORL1 are associated with an X‐linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 870, doi. 10.1002/ajmg.a.61118

By:

Shukla, Anju;
Girisha, Katta M.;
Somashekar, Puneeth H.;
Nampoothiri, Sheela;
McClellan, Rebecca;
Vernon, Hilary J.

Publication type:

Article

Managing the need to tell: Triggers and strategic disclosure of thalassemia major in Singapore.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 762, doi. 10.1002/ajmg.a.61107

By:

Kumar, Neha;
Turbitt, Erin;
Biesecker, Barbara B.;
Miller, Ilana M.;
Cham, Breana;
Smith, Katherine C.;
Rimal, Rajiv N.

Publication type:

Article

Female‐restricted syndromic intellectual disability in a patient from Thailand.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 758, doi. 10.1002/ajmg.a.61106

By:

Sinthuwiwat, Thivaratana;
Ittiwut, Chupong;
Porntaveetus, Thantrira;
Shotelersuk, Vorasuk

Publication type:

Article

Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 857, doi. 10.1002/ajmg.a.61103

By:

Kaur, Parneet;
Neethukrishna, Kausthubham;
Kumble, Ali;
Girisha, Katta M.;
Shukla, Anju

Publication type:

Article

Parents' perspective on having a child with Down Syndrome in France.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 770, doi. 10.1002/ajmg.a.61102

By:

Bertrand, Remi

Publication type:

Article

A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 852, doi. 10.1002/ajmg.a.61101

By:

Wagner, Victoria F.;
Hillman, Paul R.;
Britt, Allison D.;
Ray, Joseph W.;
Farach, Laura S.

Publication type:

Article

Cardiac valvular Ehlers‐Danlos syndrome is a well‐defined condition due to recessive null variants in COL1A2.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 846, doi. 10.1002/ajmg.a.61100

By:

Guarnieri, Vito;
Morlino, Silvia;
Di Stolfo, Giuseppe;
Mastroianno, Sandra;
Mazza, Tommaso;
Castori, Marco

Publication type:

Article

Endocannabinoid System Involved in Cognitive Disorders in Mouse Models of Down Syndrome.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 755, doi. 10.1002/ajmg.a.61099
Publication type:: Article

Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 842, doi. 10.1002/ajmg.a.61096

By:

German, Kendell;
Deutsch, Gail H.;
Freed, Amanda S.;
Dipple, Katrina M.;
Chabra, Shilpi;
Bennett, James T.

Publication type:

Article

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 837, doi. 10.1002/ajmg.a.61095

By:

McNiven, Vanda;
Ito, Yoko A.;
Hartley, Taila;
Kernohan, Kristin;
Miller, Elka;
Armour, Christine M.

Publication type:

Article

Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers–Danlos syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 797, doi. 10.1002/ajmg.a.61094

By:

Shalhub, Sherene;
Neptune, Enid;
Sanchez, Desiree E.;
Dua, Anahita;
Arellano, Nelson;
McDonnell, Nazli B.;
Milewicz, Dianna M.

Publication type:

Article

A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 832, doi. 10.1002/ajmg.a.61093

By:

Karoglan, Ante;
Schanze, Denny;
Bär, Claudia;
Muschke, Petra;
Zenker, Martin;
Schanze, Ina

Publication type:

Article

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 827, doi. 10.1002/ajmg.a.61092

By:

Catania, Alessia;
Legati, Andrea;
Peverelli, Lorenzo;
Nanetti, Lorenzo;
Marchet, Silvia;
Zanetti, Nadia;
Lamperti, Costanza;
Ghezzi, Daniele

Publication type:

Article

Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 792, doi. 10.1002/ajmg.a.61091

By:

Carlston, Colleen M.;
Bleyl, Steven B.;
Andrews, Ashley;
Meyers, Lindsay;
Brown, Sara;
Bayrak‐Toydemir, Pinar;
Bale, James F.;
Botto, Lorenzo D.

Publication type:

Article

The Society for Craniofacial Genetics and Developmental Biology 41st Annual Meeting.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 864, doi. 10.1002/ajmg.a.61090

By:

Taneyhill, Lisa A.;
Moody, Sally A.;
Cox, Timothy;
Klein, Ophir D.;
Marcucio, Ralph;
Schneider, Richard A.;
Trainor, Paul A.

Publication type:

Article

Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 782, doi. 10.1002/ajmg.a.61089

By:

Le, Trang N.;
Williams, Stephen R.;
Alaimo, Joseph T.;
Elsea, Sarah H.

Publication type:

Article

Klippel–Feil syndrome as a novel feature of Schimke immunoosseous dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 862, doi. 10.1002/ajmg.a.61087

By:

Power, Bronwyn D.;
Walsh, Kevin P.;
Awan, Atif;
Waldron, Mary;
O'Grady, Michael J.

Publication type:

Article

Okamoto syndrome has features overlapping with Au–Kline syndrome and is caused by HNRNPK mutation.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 822, doi. 10.1002/ajmg.a.61079

By:

Okamoto, Nobuhiko

Publication type:

Article

Retinoic acid receptor beta variant‐related colonic hypoganglionosis.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 817, doi. 10.1002/ajmg.a.61078

By:

Foster, Katharine J.;
Zhang, Stephanie Q.;
Braddock, Stephen R.;
Torti, Erin;
Chikarmane, Rashmi;
Sotelo‐Avila, Cirilo;
Greenspon, Jose

Publication type:

Article

Neu–Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 813, doi. 10.1002/ajmg.a.61076

By:

Bourque, Danielle K.;
Cloutier, Mireille;
Kernohan, Kristin D.;
Bareke, Eric;
Grynspan, David;
Michaud, Jean;
Boycott, Kym M.

Publication type:

Article

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 803, doi. 10.1002/ajmg.a.61074

By:

Shayota, Brian J.;
Soler‐Alfonso, Claudia;
Bekheirnia, Mir Reza;
Mizerik, Elizabeth;
Boyer, Suzy W.;
Xiao, Rui;
Yang, Yaping;
Elsea, Sarah H.;
Scaglia, Fernando

Publication type:

Article

Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss‐of‐function disorder, a SWI/SNF‐related intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 808, doi. 10.1002/ajmg.a.61075

By:

Khazanchi, Rohan;
Ronspies, Carey A.;
Smith, Scott C.;
Starr, Lois J.

Publication type:

Article

Largest Description of ST3GAL5 (GM3 synthase) Deficiency May Provide Baseline for Future Therapies: Detailed natural history data combined with objective measures of tissue function was used to create the largest description of ST2GAL5 defi ciency to date

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 754, doi. 10.1002/ajmg.a.40447
Publication type:: Article

Publication schedule for 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 753, doi. 10.1002/ajmg.a.40446
Publication type:: Article

Table of Contents, Volume 179A, Number 5, May 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 749, doi. 10.1002/ajmg.a.40445
Publication type:: Article