Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 4

Results: 46

Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 905, doi. 10.1002/ajmg.a.38088
By:
- Awadh, Wael;
- Kiukkonen, Anu;
- Nieminen, Pekka;
- Arte, Sirpa;
- Hurmerinta, Kirsti;
- Rice, David P.
Publication type:
Article
Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1041, doi. 10.1002/ajmg.a.38089
By:
- Sheth, Jayesh;
- Ranjan, Gyan;
- Shah, Krati;
- Bhavsar, Riddhi;
- Sheth, Frenny
Publication type:
Article
First drug to treat spinal muscular atrophy gets FDA approval.
Published in:
2017
Publication type:
Other
Lawsuit raises questions about variant interpretation and communication.
Published in:
2017
Publication type:
Other
Cover Image, Volume 173A, Number 4, April 2017.
Published in:
2017
By:
- Kruszka, Paul;
- Addissie, Yonit A.;
- McGinn, Daniel E.;
- Porras, Antonio R.;
- Biggs, Elijah;
- Share, Matthew;
- Crowley, T. Blaine;
- Chung, Brian H. Y.;
- Mok, Gary T. K.;
- Mak, Christopher C. Y.;
- Muthukumarasamy, Premala;
- Thong, Meow‐Keong;
- Sirisena, Nirmala D.;
- Dissanayake, Vajira H. W.;
- Paththinige, C. Sampath;
- Prabodha, L. B. Lahiru;
- Mishra, Rupesh;
- Shotelersuk, Vorasuk;
- Ekure, Ekanem Nsikak;
- Sokunbi, Ogochukwu Jidechukwu
Publication type:
Other
Turner syndrome-specific and general population Z-scores are equivalent for most adults with Turner syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1094, doi. 10.1002/ajmg.a.38100
By:
- Prakash, Siddharth;
- Milewicz, Dianna
Publication type:
Article
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 938, doi. 10.1002/ajmg.a.38101
By:
- Romanelli Tavares, Vanessa L.;
- Zechi‐Ceide, Roseli M.;
- Bertola, Debora R.;
- Gordon, Christopher T.;
- Ferreira, Simone G.;
- Hsia, Gabriella S. P.;
- Yamamoto, Guilherme L.;
- Ezquina, Suzana A. M.;
- Kokitsu‐Nakata, Nancy M.;
- Vendramini‐Pittoli, Siulan;
- Freitas, Renato S.;
- Souza, Josiane;
- Raposo‐Amaral, Cesar A.;
- Zatz, Mayana;
- Amiel, Jeanne;
- Guion‐Almeida, Maria L.;
- Passos‐Bueno, Maria Rita
Publication type:
Article
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 959, doi. 10.1002/ajmg.a.38102
By:
- Logeswaran, Thushiha;
- Friedburg, Christoph;
- Hofmann, Karoline;
- Akintuerk, Hakan;
- Biskup, Saskia;
- Graef, Michael;
- Rad, Ali;
- Weber, Axel;
- Neubauer, Bernd A.;
- Schranz, Dietmar;
- Bouvagnet, Patrice;
- Lorenz, Birgit;
- Hahn, Andreas
Publication type:
Article
Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1038, doi. 10.1002/ajmg.a.38104
By:
- Salman, Alexander;
- Cougnoux, Antony;
- Farhat, Nicole;
- Wassif, Christopher A.;
- Porter, Forbes D.
Publication type:
Article
Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 978, doi. 10.1002/ajmg.a.38105
By:
- Yeung, Kit San;
- Ip, Janice Jing Kun;
- Chow, Chin Pang;
- Kuong, Evelyn Yue Ling;
- Tam, Paul Kwong‐Hang;
- Chan, Godfrey Chi‐Fung;
- Chung, Brian Hon‐Yin
Publication type:
Article
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 914, doi. 10.1002/ajmg.a.38106
By:
- Morlino, Silvia;
- Dordoni, Chiara;
- Sperduti, Isabella;
- Venturini, Marina;
- Celletti, Claudia;
- Camerota, Filippo;
- Colombi, Marina;
- Castori, Marco
Publication type:
Article
Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1090, doi. 10.1002/ajmg.a.38107
By:
- Abdalla, Ebtesam;
- Bartsch, Oliver;
- Galetzka, Danuta;
- Zechner, Ulrich
Publication type:
Article
Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1061, doi. 10.1002/ajmg.a.38108
By:
- Siegfried, Aurore;
- Cances, Claude;
- Denuelle, Marie;
- Loukh, Najat;
- Tauber, Maïté;
- Cavé, Hélène;
- Delisle, Marie‐Bernadette
Publication type:
Article
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1051, doi. 10.1002/ajmg.a.38140
By:
- Sharkia, Rajech;
- Shalev, Stavit A.;
- Zalan, Abdelnaser;
- Marom‐David, Milit;
- Watemberg, Nathan;
- Urquhart, Jill E.;
- Daly, Sarah B.;
- Bhaskar, Sanjeev S.;
- Williams, Simon G.;
- Newman, William G.;
- Spiegel, Ronen;
- Azem, Abdussalam;
- Elpeleg, Orly;
- Mahajnah, Muhammad
Publication type:
Article
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1097, doi. 10.1002/ajmg.a.38141
By:
- Couser, Natario L.;
- Pande, Chetna K.;
- Turcott, Christie M.;
- Spector, Elaine B.;
- Aylsworth, Arthur S.;
- Powell, Cynthia M.
Publication type:
Article
22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1066, doi. 10.1002/ajmg.a.38109
By:
- Falah, Nadia;
- Posey, Jennifer E.;
- Thorson, Willa;
- Benke, Paul;
- Tekin, Mustafa;
- Tarshish, Brocha;
- Lupski, James R.;
- Harel, Tamar
Publication type:
Article
A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1082, doi. 10.1002/ajmg.a.38122
By:
- Kohmoto, Tomohiro;
- Naruto, Takuya;
- Watanabe, Miki;
- Fujita, Yuji;
- Ujiro, Sae;
- Okamoto, Nana;
- Horikawa, Hideaki;
- Masuda, Kiyoshi;
- Imoto, Issei
Publication type:
Article
Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 953, doi. 10.1002/ajmg.a.38123
By:
- Cavadino, Alana;
- Morris, Joan K.
Publication type:
Article
22q11.2 deletion syndrome in diverse populations.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 879, doi. 10.1002/ajmg.a.38199
By:
- Kruszka, Paul;
- Addissie, Yonit A.;
- McGinn, Daniel E.;
- Porras, Antonio R.;
- Biggs, Elijah;
- Share, Matthew;
- Crowley, T. Blaine;
- Chung, Brian H. Y.;
- Mok, Gary T. K.;
- Mak, Christopher C. Y.;
- Muthukumarasamy, Premala;
- Thong, Meow‐Keong;
- Sirisena, Nirmala D.;
- Dissanayake, Vajira H. W.;
- Paththinige, C. Sampath;
- Prabodha, L. B. Lahiru;
- Mishra, Rupesh;
- Shotelersuk, Vorasuk;
- Ekure, Ekanem Nsikak;
- Sokunbi, Ogochukwu Jidechukwu
Publication type:
Article
The phenotypic spectrum of congenital Zika syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 841, doi. 10.1002/ajmg.a.38170
By:
- del Campo, Miguel;
- Feitosa, Ian M. L.;
- Ribeiro, Erlane M.;
- Horovitz, Dafne D. G.;
- Pessoa, André L. S.;
- França, Giovanny V. A.;
- García‐Alix, Alfredo;
- Doriqui, Maria J. R.;
- Wanderley, Hector Y. C.;
- Sanseverino, Maria V. T.;
- Neri, João I. C. F.;
- Pina‐Neto, João M.;
- Santos, Emerson S.;
- Verçosa, Islane;
- Cernach, Mirlene C. S. P.;
- Medeiros, Paula F. V.;
- Kerbage, Saile C.;
- Silva, André A.;
- van der Linden, Vanessa;
- Martelli, Celina M. T.
Publication type:
Article
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1009, doi. 10.1002/ajmg.a.38120
By:
- Altassan, Ruqaiah;
- Saud, Haya Al;
- Masoodi, Tariq Ahmad;
- Dosssari, Haya Al;
- Khalifa, Ola;
- Al‐Zaidan, Hamad;
- Sakati, Nadia;
- Rhabeeni, Zuhair;
- Al‐Hassnan, Zuhair;
- Binamer, Yousef;
- Alhashemi, Nadia;
- Wade, William;
- Al‐Zayed, Zayed;
- Al‐Sayed, Moeen;
- Al‐Muhaizea, Mohamed A.;
- Meyer, Brian;
- Al‐Owain, Mohammad;
- Wakil, Salma M.
Publication type:
Article
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1017, doi. 10.1002/ajmg.a.38142
By:
- Ripperger, Tim;
- Bielack, Stefan S.;
- Borkhardt, Arndt;
- Brecht, Ines B.;
- Burkhardt, Birgit;
- Calaminus, Gabriele;
- Debatin, Klaus‐Michael;
- Deubzer, Hedwig;
- Dirksen, Uta;
- Eckert, Cornelia;
- Eggert, Angelika;
- Erlacher, Miriam;
- Fleischhack, Gudrun;
- Frühwald, Michael C.;
- Gnekow, Astrid;
- Goehring, Gudrun;
- Graf, Norbert;
- Hanenberg, Helmut;
- Hauer, Julia;
- Hero, Barbara
Publication type:
Article
High prevalence of fatigue in adults with a 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 858, doi. 10.1002/ajmg.a.38094
By:
- Vergaelen, Elfi;
- Claes, Stephan;
- Kempke, Stefan;
- Swillen, Ann
Publication type:
Article
Foramen magnum compression in Coffin-Lowry syndrome: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1087, doi. 10.1002/ajmg.a.38095
By:
- Upadia, Jariya;
- Oakes, Jerry;
- Hamm, Austin;
- Hurst, Anna C. E.;
- Robin, Nathaniel H.
Publication type:
Article
The society for craniofacial genetics and developmental biology 39th annual meeting.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 985, doi. 10.1002/ajmg.a.38096
By:
- Fish, Jennifer L.;
- Albertson, Craig;
- Harris, Matthew P.;
- Lozanoff, Scott;
- Marcucio, Ralph S.;
- Richtsmeier, Joan T.;
- Trainor, Paul A.
Publication type:
Article
Descriptive study of the complete blood count in newborn infants with Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 897, doi. 10.1002/ajmg.a.38097
By:
- Martínez‐Macías, Francisco Javier;
- Bobadilla‐Morales, Lucina;
- González‐Cruz, Janet;
- Quiles‐Corona, Moisés;
- Corona‐Rivera, Alfredo;
- Peña‐Padilla, Christian;
- Orozco‐Vela, Mireya;
- Silva‐Cruz, Rocío;
- Velarde‐Rivera, Fernando;
- Corona‐Rivera, Jorge Román
Publication type:
Article
Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1056, doi. 10.1002/ajmg.a.38098
By:
- Kekis, Mariana;
- Deeg, Carol;
- Hashimoto, Sayaka;
- McKinney, Aimee;
- Erdman, Linda;
- Green‐Geer, Cecelia;
- Shuss, Christine;
- Hickey, Scott;
- Astbury, Caroline;
- Pyatt, Robert E.
Publication type:
Article
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1071, doi. 10.1002/ajmg.a.38099
By:
- Takagi, Masaki;
- Dobashi, Kazushige;
- Nagahara, Keiko;
- Kato, Mitsuhiro;
- Nishimura, Gen;
- Fukuzawa, Ryuji;
- Narumi, Satoshi;
- Hasegawa, Tomonobu
Publication type:
Article
Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1077, doi. 10.1002/ajmg.a.38111
By:
- Soma, Noriko;
- Higashimoto, Ken;
- Imamura, Masaru;
- Saitoh, Akihiko;
- Soejima, Hidenobu;
- Nagasaki, Keisuke
Publication type:
Article
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1119, doi. 10.1002/ajmg.a.38112
By:
- Marini, Carla;
- Hardies, Katia;
- Pisano, Tiziana;
- May, Patrick;
- Weckhuysen, Sarah;
- Cellini, Elena;
- Suls, Arvid;
- Mei, Davide;
- Balling, Rudi;
- Jonghe, Peter D.;
- Helbig, Ingo;
- Garozzo, Domenico;
- Guerrini, Renzo
Publication type:
Article
A qualitative study of adolescents' understanding of biobanks and their attitudes toward participation, re-contact, and data sharing.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 930, doi. 10.1002/ajmg.a.38114
By:
- Murad, Andrea M.;
- Myers, Melanie F.;
- Thompson, Susan D.;
- Fisher, Rachel;
- Antommaria, Armand H. Matheny
Publication type:
Article
Brain morphology in children with nevoid basal cell carcinoma syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 946, doi. 10.1002/ajmg.a.38115
By:
- Shiohama, Tadashi;
- Fujii, Katsunori;
- Miyashita, Toshiyuki;
- Mizuochi, Hiromi;
- Uchikawa, Hideki;
- Shimojo, Naoki
Publication type:
Article
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1102, doi. 10.1002/ajmg.a.38116
By:
- Moosa, Shahida;
- Haagerup, Annette;
- Gregersen, Pernille Axel;
- Petersen, Karin Kastberg;
- Altmüller, Janine;
- Thiele, Holger;
- Nürnberg, Peter;
- Cho, Tae‐Joon;
- Kim, Ok‐Hwa;
- Nishimura, Gen;
- Wollnik, Bernd;
- Vogel, Ida
Publication type:
Article
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1109, doi. 10.1002/ajmg.a.38118
By:
- Chiu, Annie Ting Gee;
- Leung, Gordon Ka‐Chun;
- Chu, Yoyo Wing‐Yiu;
- Gripp, Karen W.;
- Chung, Brian Hon‐Yin
Publication type:
Article
Sleep-disordered breathing and its management in children with achondroplasia.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 868, doi. 10.1002/ajmg.a.38130
By:
- Tenconi, Rossana;
- Khirani, Sonia;
- Amaddeo, Alessandro;
- Michot, Caroline;
- Baujat, Geneviève;
- Couloigner, Vincent;
- De Sanctis, Livio;
- James, Syril;
- Zerah, Michel;
- Cormier‐Daire, Valérie;
- Fauroux, Brigitte
Publication type:
Article
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1115, doi. 10.1002/ajmg.a.38131
By:
- Haanpää, Maria;
- Schlecht, Helena;
- Batra, Gauri;
- Clayton‐Smith, Jill;
- Douzgou, Sofia
Publication type:
Article
The outcomes of 31 cases of trisomy 13 diagnosed in utero with various management options.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 966, doi. 10.1002/ajmg.a.38132
By:
- Takahashi, Ken;
- Sasaki, Aiko;
- Wada, Seiji;
- Wada, Yuka;
- Tsukamoto, Keiko;
- Kosaki, Rika;
- Ito, Yushi;
- Sago, Haruhiko
Publication type:
Article
In Memoriam: Laurence E. Karp (1939-2016).
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1007, doi. 10.1002/ajmg.a.38133
By:
- Resta, Robert G.
Publication type:
Article
An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1124, doi. 10.1002/ajmg.a.38134
By:
- Shirai, Kentaro;
- Higashi, Yuya;
- Shimojima, Keiko;
- Yamamoto, Toshiyuki
Publication type:
Article
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1047, doi. 10.1002/ajmg.a.38135
By:
- Symoens, Sofie;
- Steyaert, Wouter;
- Demuynck, Lynn;
- De Paepe, Anne;
- Diderich, Karin E. M.;
- Malfait, Fransiska;
- Coucke, Paul J.
Publication type:
Article
A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1128, doi. 10.1002/ajmg.a.38136
By:
- Siddique, Azeem;
- Willoughby, Josh;
- McNeill, Alisdair
Publication type:
Article
A predictive model for obstructive sleep apnea and Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 889, doi. 10.1002/ajmg.a.38137
By:
- Skotko, Brian G.;
- Macklin, Eric A.;
- Muselli, Marco;
- Voelz, Lauren;
- McDonough, Mary Ellen;
- Davidson, Emily;
- Allareddy, Veerasathpurush;
- Jayaratne, Yasas S. N.;
- Bruun, Richard;
- Ching, Nicholas;
- Weintraub, Gil;
- Gozal, David;
- Rosen, Dennis
Publication type:
Article
Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 972, doi. 10.1002/ajmg.a.38139
By:
- Raun, Nicholas;
- Mailo, Janette;
- Spinelli, Egidio;
- He, Xu;
- McAvena, Sarah;
- Brand, Logan;
- O'Sullivan, Julia;
- Andersen, John;
- Richer, Lawrence;
- Tang‐Wai, Richard;
- Bolduc, Francois V.
Publication type:
Article
Table of Contents, Volume 173A, Number 4, April 2017.
Published in:
2017
Publication type:
Other
Publication schedule for 2017.
Published in:
2017
Publication type:
Other
In this issue.
Published in:
2017
Publication type:
Other