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

Results: 30

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
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
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
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
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
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
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
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
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
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