Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 3

Results: 34

Making a (cautious) case for expanding reproductive genetic carrier screens.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 510, doi. 10.1002/ajmg.a.38643
Publication type:: Article

Cover Image, Volume 176A, Number 3, March 2018.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. i, doi. 10.1002/ajmg.a.38642

By:

Tamai, Kei;
Tada, Katsuhiko;
Takeuchi, Akihito;
Nakamura, Makoto;
Marunaka, Hidenori;
Washio, Yosuke;
Tanaka, Hiroyuki;
Miya, Fuyuki;
Okamoto, Nobuhiko;
Kageyama, Misao

Publication type:

Article

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 715, doi. 10.1002/ajmg.a.38615

By:

Alrakaf, Laila;
Al‐Owain, Mohammed A.;
Busehail, Maryam;
Alotaibi, Maha A.;
Monies, Dorota;
Aldhalaan, Hesham M.;
Alhashem, Amal;
Al‐Hassnan, Zuhair N.;
Rahbeeni, Zuhair A.;
Murshedi, Fathiya Al;
Ani, Nadia Al;
Al‐Maawali, Almundher;
Ibrahim, Niema A.;
Abdulwahab, Firdous M.;
Alsagob, Maysoon;
Hashem, Mais O.;
Ramadan, Wafaa;
Abouelhoda, Mohamed;
Meyer, Brian F.;
Kaya, Namik

Publication type:

Article

CHILD syndrome: A modified pathogenesis‐targeted therapeutic approach.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 733, doi. 10.1002/ajmg.a.38619

By:

Bergqvist, Christina;
Abdallah, Bilal;
Hasbani, Divina‐Justina;
Abbas, Ossama;
Kibbi, Abdul Ghani;
Hamie, Lamiaa;
Kurban, Mazen;
Rubeiz, Nelly

Publication type:

Article

A new mutation in the C‐terminal end of <italic>TTC37</italic> leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 727, doi. 10.1002/ajmg.a.38618

By:

Fabre, Alexandre;
Petit, Laetitia‐Marie;
Hansen, Lars F.;
Wewer, Anne V.;
Esteve, Clothilde;
Chaix, Charlène;
Bourgeois, Patrice;
Badens, Catherine;
Paerregaard, Anders

Publication type:

Article

History and highlights of the teratological collection in the <italic>Museum Anatomicum</italic> of Leiden University, The Netherlands.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 618, doi. 10.1002/ajmg.a.38617

By:

Boer, Lucas L.;
Boek, Peter L. J.;
van Dam, Andries J.;
Oostra, Roelof‐Jan

Publication type:

Article

Growth pattern of Rahman syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 712, doi. 10.1002/ajmg.a.38616

By:

Takenouchi, Toshiki;
Uehara, Tomoko;
Kosaki, Kenjiro;
Mizuno, Seiji

Publication type:

Article

Nonsense mutations in <italic>FZD2</italic> cause autosomal‐dominant omodysplasia: Robinow syndrome‐like phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 739, doi. 10.1002/ajmg.a.38623

By:

Nagasaki, Keisuke;
Nishimura, Gen;
Kikuchi, Toru;
Nyuzuki, Hiromi;
Sasaki, Sunao;
Ogawa, Yohei;
Saitoh, Akihiko

Publication type:

Article

Gratitude, protective buffering, and cognitive dissonance: How families respond to pediatric whole exome sequencing in the absence of actionable results.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 578, doi. 10.1002/ajmg.a.38613

By:

Werner‐Lin, Allison;
Zaspel, Lori;
Carlson, Mae;
Mueller, Rebecca;
Walser, Sarah A.;
Desai, Ria;
Bernhardt, Barbara A.

Publication type:

Article

A parent‐of‐origin analysis of paternal genetic variants and increased risk of conotruncal heart defects.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 609, doi. 10.1002/ajmg.a.38611

By:

Nembhard, Wendy N.;
Tang, Xinyu;
Li, Jingyun;
MacLeod, Stewart L.;
Levy, Joseph;
Schaefer, Gerald B.;
Hobbs, Charlotte A.;
the National Birth Defects Prevention Study

Publication type:

Article

Three patients with Schaaf–Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 707, doi. 10.1002/ajmg.a.38606

By:

Enya, Takuji;
Okamoto, Nobuhiko;
Iba, Yoshinori;
Miyazawa, Tomoki;
Okada, Mitsuru;
Ida, Shinobu;
Naruto, Takuya;
Imoto, Issei;
Fujita, Atsushi;
Miyake, Noriko;
Matsumoto, Naomichi;
Sugimoto, Keisuke;
Takemura, Tsukasa

Publication type:

Article

Perthes disease: A new finding in Floating‐Harbor syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 703, doi. 10.1002/ajmg.a.38605

By:

Milani, Donatella;
Scuvera, Giulietta;
Gatti, Marta;
Tolva, Gianluca;
Bonarrigo, Francesca;
Esposito, Susanna;
Gervasini, Cristina

Publication type:

Article

Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 687, doi. 10.1002/ajmg.a.38599

By:

Bakshi, Nasir A.;
Al‐Anzi, Talal;
Mohamed, Said Y.;
Rahbeeni, Zuhair;
AlSayed, Moeen;
Al‐Owain, Mohammed;
Sulaiman, Raashda A.

Publication type:

Article

Benign and malignant tumors in Rubinstein–Taybi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 597, doi. 10.1002/ajmg.a.38603

By:

Boot, Max V.;
van Belzen, Martine J.;
Overbeek, Lucy I.;
Hijmering, Nathalie;
Mendeville, Matias;
Waisfisz, Quinten;
Wesseling, Pieter;
Hennekam, Raoul C.;
de Jong, Daphne

Publication type:

Article

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a <italic>NADK2</italic> start loss variant.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 692, doi. 10.1002/ajmg.a.38602

By:

Pomerantz, Daniel J.;
Ferdinandusse, Sacha;
Cogan, Joy;
Cooper, David N.;
Reimschisel, Tyler;
Robertson, Amy;
Bican, Anna;
McGregor, Tracy;
Gauthier, Jackie;
Millington, David S.;
Andrae, Jaime L. W.;
Tschannen, Michael R.;
Helbling, Daniel C.;
Demos, Wendy M.;
Denis, Simone;
Wanders, Ronald J. A.;
Newman, John N.;
Hamid, Rizwan;
Phillips, III, John A.;
Collaborators of UDN

Publication type:

Article

Clinical features, <italic>BTD</italic> gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 589, doi. 10.1002/ajmg.a.38601

By:

Liu, Zongcai;
Zhao, Xiaoyuan;
Sheng, Huiying;
Cai, Yanna;
Yin, Xi;
Chen, Xiaodan;
Su, Ling;
Lu, Zhikun;
Zeng, Chunhua;
Li, Xiuzhen;
Liu, Li

Publication type:

Article

<italic>NRP1</italic> haploinsufficiency predisposes to the development of Tetralogy of Fallot.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 649, doi. 10.1002/ajmg.a.38600

By:

Duran, Ivan;
Tenney, Jessica;
Warren, Carmen M.;
Sarukhanov, Anna;
Csukasi, Fabiana;
Skalansky, Mark;
Iruela‐Arispe, Maria L.;
Krakow, Deborah

Publication type:

Article

Cutis laxa and excessive bone growth due to de novo mutations in <italic>PTDSS1</italic>.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 668, doi. 10.1002/ajmg.a.38604

By:

Piard, Juliette;
Lespinasse, James;
Vlckova, Marketa;
Mensah, Martin A.;
Iurian, Sorin;
Simandlova, Martina;
Malikova, Marcela;
Bartsch, Oliver;
Rossi, Massimiliano;
Lenoir, Marion;
Nugues, Frédérique;
Mundlos, Stefan;
Kornak, Uwe;
Stanier, Philip;
Sousa, Sérgio B.;
Van Maldergem, Lionel

Publication type:

Article

Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non‐lethal form of Raine syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 682, doi. 10.1002/ajmg.a.38598

By:

Tamai, Kei;
Tada, Katsuhiko;
Takeuchi, Akihito;
Nakamura, Makoto;
Marunaka, Hidenori;
Washio, Yosuke;
Tanaka, Hiroyuki;
Miya, Fuyuki;
Okamoto, Nobuhiko;
Kageyama, Misao

Publication type:

Article

Somatic mosaic deletions involving <italic>SCN1A</italic> cause Dravet syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 657, doi. 10.1002/ajmg.a.38596

By:

Nakayama, Tojo;
Ishii, Atsushi;
Yoshida, Takeshi;
Nasu, Hirosato;
Shimojima, Keiko;
Yamamoto, Toshiyuki;
Kure, Shigeo;
Hirose, Shinichi

Publication type:

Article

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 699, doi. 10.1002/ajmg.a.38595

By:

Tokaji, Narumi;
Ito, Hiromichi;
Kohmoto, Tomohiro;
Naruto, Takuya;
Takahashi, Rizu;
Goji, Aya;
Mori, Tatsuo;
Toda, Yoshihiro;
Saito, Masako;
Tange, Shoichiro;
Masuda, Kiyoshi;
Kagami, Shoji;
Imoto, Issei

Publication type:

Article

Risk of infantile hemangiomas in the offspring of women with autoimmune disease and the pathogenic implications of these lesions.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 570, doi. 10.1002/ajmg.a.38594

By:

Smith, Chelsey J. F.;
Jones, Kenneth L.;
Johnson, Diana L.;
Bandoli, Gretchen;
Robinson, Loan K.;
Kavanaugh, Arthur;
Chambers, Christina D.

Publication type:

Article

A novel pathogenic <italic>MYH3</italic> mutation in a child with Sheldon–Hall syndrome and vertebral fusions.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 663, doi. 10.1002/ajmg.a.38593

By:

Scala, Marcello;
Accogli, Andrea;
De Grandis, Elisa;
Allegri, Anna;
Bagowski, Christoph P.;
Shoukier, Moneef;
Maghnie, Mohamad;
Capra, Valeria

Publication type:

Article

Bi‐allelic mutations of <italic>CCDC88C</italic> are a rare cause of severe congenital hydrocephalus.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 676, doi. 10.1002/ajmg.a.38592

By:

Ruggeri, Gaia;
Timms, Andrew E.;
Cheng, Chi;
Weiss, Avery;
Kollros, Peter;
Chapman, Teresa;
Tully, Hannah;
Mirzaa, Ghayda M.

Publication type:

Article

Response to phenotypic hetergeneity of POMT2 variants.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 746, doi. 10.1002/ajmg.a.38591

By:

Guerin, Andrea;
Wilson, Gregory;
Abdullah, Sarah;
Mertens, Luc;
Yoon, Grace;
Carter, Melissa

Publication type:

Article

Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 560, doi. 10.1002/ajmg.a.38590

By:

Quiñones‐Pérez, Bianca;
VanNoy, Grace E.;
Towne, Meghan C.;
Shen, Yiping;
Singh, Michael N.;
Agrawal, Pankaj B.;
Smith, Sharon E.

Publication type:

Article

<italic>UBE2A</italic> deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 722, doi. 10.1002/ajmg.a.38589

By:

Giugliano, Teresa;
Santoro, Claudia;
Torella, Annalaura;
Del Vecchio Blanco, Francesca;
Bernardo, Pia;
Nigro, Vincenzo;
Piluso, Giulio

Publication type:

Article

Phenotypic heterogeneity of <italic>POMT2</italic> gene variants.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 743, doi. 10.1002/ajmg.a.38588

By:

Finsterer, Josef

Publication type:

Article

Clinical and cytogenomic findings in OAV spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 638, doi. 10.1002/ajmg.a.38576

By:

Bragagnolo, Silvia;
Colovati, Mileny E. S.;
Souza, Malu Z.;
Dantas, Anelise G.;
F de Soares, Maria F.;
Melaragno, Maria I.;
Perez, Ana B.

Publication type:

Article

Intellectual disability and epilepsy due to the K/L‐mediated Xq28 duplication: Further evidence of a distinct, dosage‐dependent phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 551, doi. 10.1002/ajmg.a.38524

By:

Ward, David Isum;
Buckley, Bethany A.;
Leon, Eyby;
Diaz, Jullianne;
Galegos, Margaret Faust;
Hofherr, Sean;
Lewanda, Amy Feldman

Publication type:

Article

Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 515, doi. 10.1002/ajmg.a.38486

By:

Ruggieri, Martino;
Praticò, Andrea D.;
Caltabiano, Rosario;
Polizzi, Agata

Publication type:

Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 513, doi. 10.1002/ajmg.a.38429
Publication type:: Article

Publication schedule for 2018.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 509, doi. 10.1002/ajmg.a.38428
Publication type:: Article

Table of Contents, Volume 176A, Number 3, March 2018.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 505, doi. 10.1002/ajmg.a.38427
Publication type:: Article