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
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
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
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
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
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
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
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
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