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