Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 11

Results: 30

Cover Image, Volume 179A, Number 11, November 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. i, doi. 10.1002/ajmg.a.61048
Publication type:: Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2167, doi. 10.1002/ajmg.a.61351
Publication type:: Article

Opportunities and Challenges for Implementing Genomics into Clinical Care.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2165, doi. 10.1002/ajmg.a.61350
Publication type:: Article

Do individuals with Angelman syndrome have a maladaptive behavior?

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2317, doi. 10.1002/ajmg.a.61346

By:

Ostergaard, John R.

Publication type:

Article

Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2178, doi. 10.1002/ajmg.a.61345

By:

Yu, Alexander;
Turbiville, Donald;
Xu, Fangling;
Ray, Joseph W.;
Britt, Allison D.;
Lupo, Pamela J.;
Jain, Sunil K.;
Shattuck, Karen E.;
Robinson, Sally S.;
Dong, Jianli

Publication type:

Article

Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2190, doi. 10.1002/ajmg.a.61344

By:

Darras, Natasha;
Ha, Thoa K.;
Rego, Shannon;
Martin, Pierre‐Marie;
Barroso, Eva;
Slavotinek, Anne M.;
Cilio, Maria R.

Publication type:

Article

Obituary: Antonio Richieri‐Costa (1946–2019).

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2169, doi. 10.1002/ajmg.a.61343

By:

Gil‐da‐Silva‐Lopes, Vera L.

Publication type:

Article

A group of Brazilian Turner syndrome patients: Better quality of life than the control group.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2196, doi. 10.1002/ajmg.a.61341

By:

Reis, Carolina T.;
Macedo, Marina C.;
Morcillo, André M.;
Guerra‐Junior, Gil;
Lemos‐Marini, Sofia Helena V.

Publication type:

Article

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2277, doi. 10.1002/ajmg.a.61339

By:

Gatti, Marta;
Magri, Stefania;
Nanetti, Lorenzo;
Sarto, Elisa;
Di Bella, Daniela;
Salsano, Ettore;
Pantaleoni, Chiara;
Mariotti, Caterina;
Taroni, Franco

Publication type:

Article

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2272, doi. 10.1002/ajmg.a.61338

By:

Karolak, Justyna A.;
Bacolla, Albino;
Liu, Qian;
Lantz, Patrick E.;
Petty, John;
Trapane, Pamela;
Panzer, Karin;
Totapally, Balagangadhar R.;
Niu, Zhiyv;
Xiao, Rui;
Xie, Nina G.;
Wu, Lucia R.;
Szafranski, Przemyslaw;
Zhang, David Y.;
Stankiewicz, Paweł

Publication type:

Article

Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2202, doi. 10.1002/ajmg.a.61337

By:

Guptha, Sushma;
Shumate, Charles;
Scheuerle, Angela E.

Publication type:

Article

Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2207, doi. 10.1002/ajmg.a.61336

By:

Mahé, Perrine;
Nagot, Nicolas;
Portales, Pierre;
Lozano, Claire;
Vincent, Thierry;
Sarda, Pierre;
Perez, Marie‐Jose;
Amedro, Pascal;
Marin, Gregory;
Jeziorski, Eric

Publication type:

Article

Novel dominant K<sub>ATP</sub> channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2214, doi. 10.1002/ajmg.a.61335

By:

Boodhansingh, Kara E.;
Kandasamy, Balamurugan;
Mitteer, Lauren;
Givler, Stephanie;
De Leon, Diva D.;
Shyng, Show‐Ling;
Ganguly, Arupa;
Stanley, Charles A.

Publication type:

Article

IRF2BPL gene mutation: Expanding on neurologic phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2263, doi. 10.1002/ajmg.a.61328

By:

Shelkowitz, Emily;
Singh, Jasleen K.;
Larson, Austin;
Elias, Ellen R.

Publication type:

Article

Correspondence to Rossetti et al.'s review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2315, doi. 10.1002/ajmg.a.61326

By:

Sun, Wenmin;
Xiao, Xueshan;
Zhang, Qingjiong

Publication type:

Article

The first case of a non‐infertile female patient with Pitt–Hopkins syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2311, doi. 10.1002/ajmg.a.61325

By:

Li, Haoxian;
Zhang, Yanghui;
Yu, Wenxian;
Shu, Li;
Mao, Xiao;
Jia, Zhengjun;
Xi, Hui;
Wang, Hua

Publication type:

Article

Adverse effects of antipsychotic medication in patients with 22q11.2 deletion syndrome: A systematic review.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2292, doi. 10.1002/ajmg.a.61324

By:

Boer, Janna;
Boot, Erik;
Gils, Lissa;
Amelsvoort, Therese;
Zinkstok, Janneke

Publication type:

Article

Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2284, doi. 10.1002/ajmg.a.61322

By:

Kavanaugh, Brian C.;
Warren, Emily B.;
Baytas, Ozan;
Schmidt, Michael;
Merck, Derek;
Buch, Karen;
Liu, Judy S.;
Phornphutkul, Chanika;
Caruso, Paul;
Morrow, Eric M.

Publication type:

Article

Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2257, doi. 10.1002/ajmg.a.61317

By:

Lecoquierre, François;
Bonnevalle, Antoine;
Chadie, Alexandra;
Gayet, Claire;
Dumant‐Forest, Clémentine;
Renaux‐Petel, Mariette;
Leca, Jean‐Baptiste;
Hazelzet, Tristan;
Brasseur‐Daudruy, Marie;
Louillet, Ferielle;
Muraine, Marc;
Coutant, Sophie;
Quenez, Olivier;
Boland, Anne;
Deleuze, Jean‐François;
Frebourg, Thierry;
Goldenberg, Alice;
Saugier‐Veber, Pascale;
Guerrot, Anne‐Marie;
Nicolas, Gaël

Publication type:

Article

Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2252, doi. 10.1002/ajmg.a.61314

By:

Spier, Isabel;
Engels, Hartmut;
Stutte, Sonja;
Reutter, Heiko;
Bartels, Enrika;
Matos Meder, Sarah;
Begemann, Matthias;
Mangold, Elisabeth;
Eggermann, Thomas

Publication type:

Article

Adams–Oliver syndrome caused by mutations of the EOGT gene.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2246, doi. 10.1002/ajmg.a.61313

By:

Schröder, Kim C.;
Duman, Duygu;
Tekin, Mustafa;
Schanze, Denny;
Sukalo, Maja;
Meester, Josephina;
Wuyts, Wim;
Zenker, Martin

Publication type:

Article

Coronal craniosynostosis due to TCF12 mutations in patients from Turkey.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2241, doi. 10.1002/ajmg.a.61311

By:

Yilmaz, Elanur;
Mihci, Ercan;
Nur, Banu;
Alper, Ozgul M.

Publication type:

Article

Scope of hearing loss in Beckwith–Wiedemann syndrome and hemihypertrophy.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2307, doi. 10.1002/ajmg.a.61308

By:

Camet, Miranda L.;
Hayashi, Susan S.;
Druley, Todd;
Henry, Jennifer;
Gettinger, Katie;
Stacy, Andrea;
Hayashi, Robert J.

Publication type:

Article

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2170, doi. 10.1002/ajmg.a.61305

By:

Richieri‐Costa, Antonio;
Zechi‐Ceide, Roseli M.;
Candido‐Souza, Rosana M.;
Monteiro, Rejane A. C.;
Tonello, Cristiano;
Freitas, Mariana L.;
Kokitsu‐Nakata, Nancy M.;
Vendramini‐Pittoli, Siulan;
Mazzeu, Juliana F.;
Overes, Madelief;
Ali‐Amin, Roza;
Slegtenhorst, Marjon;
Hoefsloot, Lies H.;
Jehee, Fernanda S.

Publication type:

Article

Woodhouse–Sakati Syndrome: First report of a Portuguese case.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2237, doi. 10.1002/ajmg.a.61303

By:

Louro, Pedro;
Durães, João;
Oliveira, Diana;
Paiva, Sandra;
Ramos, Lina;
Macário, Maria Carmo

Publication type:

Article

Maternally inherited MAF variant associated with variable expression of Aymé‐Gripp syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2233, doi. 10.1002/ajmg.a.61299

By:

Alkhunaizi, Ebba;
Koenekoop, Robert K.;
Saint‐Martin, Christine;
Russell, Laura

Publication type:

Article

Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2228, doi. 10.1002/ajmg.a.61297

By:

Ferreira, Laura D.;
Borges‐Medeiros, Rayssa L.;
Thies, Jenny;
Schnur, Rhonda E.;
Lam, Christina;
Oliveira, João R. M.

Publication type:

Article

Harnessing the Diagnostic Power of Genomic Technology: Genomic technology may shed years off the diagnostic process.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2164, doi. 10.1002/ajmg.a.40465
Publication type:: Article

Publication schedule for 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2163, doi. 10.1002/ajmg.a.40464
Publication type:: Article

Table of Contents, Volume 179A, Number 11, November 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2159, doi. 10.1002/ajmg.a.40463
Publication type:: Article