Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 1

Results: 26

Cover Image, Volume 179A, Number 1, January 2019.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. i, doi. 10.1002/ajmg.a.61048

By:

LaConte, Leslie E. W.;
Chavan, Vrushali;
DeLuca, Stephanie;
Rubin, Karol;
Malc, Jessica;
Berry, Susan;
Gail Summers, C.;
Mukherjee, Konark

Publication type:

Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 8, doi. 10.1002/ajmg.a.61028
Publication type:: Article

The UK Sets Goal for Sequencing 5 Million Genomes in 5 Years.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 6, doi. 10.1002/ajmg.a.61027
Publication type:: Article

Gene Editing Successfully Corrects 2 Amino Acid Disorders: In 2 preclinical studies using CRISPR‐mediated gene editing, phenylketonuria and hereditary tyrosinemia type 1 were corrected.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 5, doi. 10.1002/ajmg.a.61026
Publication type:: Article

Periconceptional folic acid supplementation in Southern Brazil: Why are not we doing it right?

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 20, doi. 10.1002/ajmg.a.60699

By:

da Rosa, Ernani B.;
Silveira, Daniélle B.;
Correia, Jamile D.;
Grapiglia, Carolina G.;
de Moraes, Samir A. G.;
Nunes, Mauricio R.;
Zen, Tatiana D.;
Oliveira, Ceres A.;
Correia, Elisa P. E.;
Alcay, Cristiane T.;
Lisboa, Marli L.;
da Cunha, Andre C.;
Zen, Paulo R. G.;
Rosa, Rafael F. M.

Publication type:

Article

Philip D. Pallister of Montana.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 9, doi. 10.1002/ajmg.a.60695

By:

Opitz, John M.;
Mullen, Pierce;
Elias, Abdallah F.

Publication type:

Article

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 134, doi. 10.1002/ajmg.a.60692

By:

Kousoulidou, Ludmila;
Alexandrou, Angelos;
Papaevripidou, Ioannis;
Evangelidou, Paola;
Tanteles, George;
Anastasiadou, Violetta C.;
Sismani, Carolina

Publication type:

Article

Clinical characterization of a PUF60 variant in a patient with Dubowitz‐like syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 130, doi. 10.1002/ajmg.a.60691

By:

Alkhunaizi, Ebba;
Braverman, Nancy

Publication type:

Article

An N‐terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 94, doi. 10.1002/ajmg.a.60687

By:

LaConte, Leslie E. W.;
Chavan, Vrushali;
DeLuca, Stephanie;
Rubin, Karol;
Malc, Jessica;
Berry, Susan;
Gail Summers, C.;
Mukherjee, Konark

Publication type:

Article

Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 123, doi. 10.1002/ajmg.a.60686

By:

Azakli, Hülya;
Akkaya, Ayse Deniz;
Aygün, Murat Serhat;
Demirkesen, Cüyan;
Eraslan, Serpil;
Kayserili, Hülya

Publication type:

Article

Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6‐month longitudinal study.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 85, doi. 10.1002/ajmg.a.60685

By:

Spiridigliozzi, Gail A.;
Goeldner, Celia;
Edgin, Jamie;
Hart, Sarah J.;
Noeldeke, Jana;
Squassante, Lisa;
Visootsak, Jeannie;
Heller, James H.;
Khwaja, Omar;
Kishnani, Priya S.;
Liogier d'Ardhuy, Xavier

Publication type:

Article

Distinct impacts of bi‐allelic WNT10A mutations on the permanent and primary dentitions in odonto‐onycho‐dermal dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 57, doi. 10.1002/ajmg.a.60682

By:

Yu, Miao;
Liu, Yang;
Liu, Haochen;
Wong, Sing‐Wai;
He, Huiying;
Zhang, Xiaoxia;
Wang, Yue;
Han, Dong;
Feng, Hailan

Publication type:

Article

Newborn screening for Prader–Willi syndrome is feasible: Early diagnosis for better outcomes.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 29, doi. 10.1002/ajmg.a.60681

By:

Mahmoud, Ranim;
Singh, Preeti;
Weiss, Lan;
Lakatos, Anita;
Oakes, Melanie;
Hossain, Waheeda;
Butler, Merlin G.;
Kimonis, Virginia

Publication type:

Article

Clinical report follow up: Type 1 Collagenopathy presenting with a Russell–Silver phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 139, doi. 10.1002/ajmg.a.60680

By:

Kanani, Farah;
Parker, Michael J.;
Burren, Christine P.;
Rankin, Julia;
Balasubramanian, Meena

Publication type:

Article

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 50, doi. 10.1002/ajmg.a.60679

By:

Hebebrand, Moritz;
Vasileiou, Georgia;
Krumbiegel, Mandy;
Kraus, Cornelia;
Uebe, Steffen;
Ekici, Arif B.;
Thiel, Christian T.;
Reis, André;
Popp, Bernt

Publication type:

Article

Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 43, doi. 10.1002/ajmg.a.60678

By:

Michael Yates, Thabo;
Ng, Oon‐Hui;
Offiah, Amaka C.;
Willoughby, Josh;
Berg, Jonathan N.;
Johnson, Diana S.

Publication type:

Article

Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 118, doi. 10.1002/ajmg.a.60676

By:

Caro‐Contreras, Alan;
Alcántara‐Ortigoza, Miguel A.;
Ahumada‐Pérez, Juan F.;
González‐del Angel, Ariadna

Publication type:

Article

High risk of spontaneous preterm birth among infants with gastroschisis.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 37, doi. 10.1002/ajmg.a.60675

By:

Baer, Rebecca J.;
Chambers, Christina D.;
Ryckman, Kelli K.;
Oltman, Scott P.;
Rand, Larry;
Jelliffe‐Pawlowski, Laura L.

Publication type:

Article

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 113, doi. 10.1002/ajmg.a.60674

By:

de Billy, Emmanuel;
Strocchio, Luisa;
Cacchione, Antonella;
Agolini, Emanuele;
Gnazzo, Maria;
Novelli, Antonio;
De Vito, Rita;
Capolino, Rossella;
Digilio, Maria Cristina;
Caruso, Roberta;
Mastronuzzi, Angela;
Locatelli, Franco

Publication type:

Article

Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 78, doi. 10.1002/ajmg.a.6

By:

Birnbaum, Roee;
Yosha‐Orpaz, Naama;
Yanoov‐Sharav, Miri;
Kidron, Dvora;
Gur, Hila;
Yosovich, Keren;
Lerman‐Sagie, Tally;
Malinger, Gustavo;
Lev, Dorit

Publication type:

Article

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 13, doi. 10.1002/ajmg.a.40531

By:

Hosseini, Masoumeh;
Fattahi, Zohreh;
Abedini, Seyedeh Sedigheh;
Hu, Hao;
Ropers, Hans‐H.;
Kalscheuer, Vera M.;
Najmabadi, Hossein;
Kahrizi, Kimia

Publication type:

Article

Gene‐targeted deletion in mice of the Ets−1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 71, doi. 10.1002/ajmg.a.40481

By:

Ye, Maoqing;
Xu, Lian;
Fu, Mengxia;
Chen, Dongrui;
Mattina, Teresa;
Zufardi, Orsetta;
Rossi, Elena;
Bush, Kevin T.;
Nigam, Sanjay K.;
Grossfeld, Paul

Publication type:

Article

Publication schedule for 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 4, doi. 10.1002/ajmg.a.40434
Publication type:: Article

Table of Contents, Volume 179A, Number 1, January 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 1, doi. 10.1002/ajmg.a.40433
Publication type:: Article

Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 65, doi. 10.1002/ajmg.a.40383

By:

Dagdeviren, Didem;
Tamimi, Faleh;
Lee, Brendan;
Sutton, Reid;
Rauch, Frank;
Retrouvey, Jean‐Marc

Publication type:

Article

LTBP2‐related "Marfan‐like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 104, doi. 10.1002/ajmg.a.10

By:

Morlino, Silvia;
Alesi, Viola;
Calì, Federica;
Lepri, Francesca Romana;
Secinaro, Aurelio;
Grammatico, Paola;
Novelli, Antonio;
Drago, Fabrizio;
Castori, Marco;
Baban, Anwar

Publication type:

Article