Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 9

Results: 47

Stuve-Wiedemann syndrome: Is it underrecognized?
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2200, doi. 10.1002/ajmg.a.36626
By:
- Yeşil, Gözde;
- Lebre, Anne Sophie;
- Santos, Sofia Dos;
- Güran, Ömer;
- Özahi, Ilke Ipek;
- Daire, Valeria Cormier;
- Güran, Tülay
Publication type:
Article
Should sex chromosomes be excluded from use in QF-PCR in prenatal samples with a molecular referral?
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2404, doi. 10.1002/ajmg.a.36637
By:
- Liao, Can;
- Li, Dong‐Zhi
Publication type:
Article
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2398, doi. 10.1002/ajmg.a.36648
By:
- Imagawa, Eri;
- Kayserili, Hülya;
- Nishimura, Gen;
- Nakashima, Mitsuko;
- Tsurusaki, Yoshinori;
- Saitsu, Hirotomo;
- Ikegawa, Shiro;
- Matsumoto, Naomichi;
- Miyake, Noriko
Publication type:
Article
De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2335, doi. 10.1002/ajmg.a.36619
By:
- Tabet, Anne‐Claude;
- Leroy, Camille;
- Dupont, Céline;
- Serrano, Emilie;
- Hernandez, Karen;
- Gallard, Jennifer;
- Pouvreau, Nathalie;
- Gadisseux, Jean‐François;
- Benzacken, Brigitte;
- Verloes, Alain
Publication type:
Article
Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2153, doi. 10.1002/ajmg.a.36610
By:
- Yu, Joon‐Ho;
- Crouch, Julia;
- Jamal, Seema M.;
- Bamshad, Michael J.;
- Tabor, Holly K.
Publication type:
Article
Next-generation sequence testing expands research into causes of hearing loss.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. vii, doi. 10.1002/ajmg.a.36732
Publication type:
Article
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2407, doi. 10.1002/ajmg.a.36640
By:
- Li, Bing;
- Krakow, Deborah;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- Chang, Yong;
- Lachman, Ralph S.;
- Yilmaz, Alev;
- Kayserili, Hülya;
- Cohn, Daniel H.
Publication type:
Article
Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2161, doi. 10.1002/ajmg.a.36611
By:
- Poulton, Cathryn J.;
- Schot, Rachel;
- Seufert, Katja;
- Lequin, Maarten H.;
- Accogli, Andrea;
- Annunzio, Giuseppe D';
- Villard, Laurent;
- Philip, Nicole;
- de Coo, René;
- Catsman‐Berrevoets, Coriene;
- Grasshoff, Ute;
- Kattentidt‐Mouravieva, Anja;
- Calf, Hans;
- de Vreugt‐Gronloh, Erika;
- van Unen, Leontine;
- Verheijen, Frans W.;
- Galjart, Niels;
- Morris‐Rosendahl, Deborah J.;
- Mancini, Grazia M. S.
Publication type:
Article
Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2365, doi. 10.1002/ajmg.a.36651
By:
- Castiglioni, Claudia;
- Bertini, Enrico;
- Orellana, Paulina;
- Villarroel, Cynthia;
- Las Heras, Facundo;
- Hinzpeter, Daniel;
- Paolinelli, Paola;
- Bevilacqua, Jorge A.;
- Alvarez, Karin
Publication type:
Article
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2360, doi. 10.1002/ajmg.a.36622
By:
- Cohen, Ana S. A.;
- Townsend, Katelin N.;
- Xiang, Qing‐San;
- Attariwala, Raj;
- Borchers, Christof;
- Senger, Christof;
- Picker, Wayne;
- Levi, Jasna;
- Yewchuk, Lila;
- Tan, Joelle;
- Eydoux, Patrice;
- Lum, Amy;
- Yong, Siu‐Li;
- McKinnon, Margaret L.;
- Lear, Scott A.;
- Everett, Robert;
- Jones, Steven J. M.;
- Yip, Stephen;
- Gibson, William T.
Publication type:
Article
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2240, doi. 10.1002/ajmg.a.36633
By:
- Gripp, Karen W.;
- Curry, Cynthia;
- Olney, Ann Haskins;
- Sandoval, Claudio;
- Fisher, Jamie;
- Chong, Jessica Xiao‐Ling;
- Pilchman, Lisa;
- Sahraoui, Rebecca;
- Stabley, Deborah L.;
- Sol‐Church, Katia
Publication type:
Article
Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader-Willi syndrome: A comparison between maternal uniparental disomy and deletion cases.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2180, doi. 10.1002/ajmg.a.36615
By:
- Ogata, Hiroyuki;
- Ihara, Hiroshi;
- Murakami, Nobuyuki;
- Gito, Masao;
- Kido, Yasuhiro;
- Nagai, Toshiro
Publication type:
Article
Radiographic evaluation of stillbirth: What does it contribute?
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2270, doi. 10.1002/ajmg.a.36650
By:
- Swenson, Erica;
- Schema, Lynn;
- McPherson, Elizabeth
Publication type:
Article
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2356, doi. 10.1002/ajmg.a.36621
By:
- Dhamija, Radhika;
- Kirmani, Salman;
- Wang, Xiangling;
- Ferber, Matthew J.;
- Wieben, Eric D.;
- Lazaridis, Konstantinos N.;
- Babovic‐Vuksanovic, Dusica
Publication type:
Article
Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2147, doi. 10.1002/ajmg.a.36632
By:
- Ben‐Omran, Tawfeg;
- Lakhani, Shenela;
- Almureikhi, Mariam;
- Ali, Rehab;
- Takahashi, Atsushi;
- Miyake, Noriko;
- Matsumoto, Naomichi;
- Ikegawa, Shiro;
- Superti‐Furga, Andrea;
- Unger, Sheila
Publication type:
Article
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2338, doi. 10.1002/ajmg.a.36614
By:
- Al Kaissi, Ali;
- Ganger, Rudolf;
- Rötzer, Katharina M.;
- Klaushofer, Klaus;
- Grill, Franz
Publication type:
Article
Growth charts for individuals with Rubinstein-Taybi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2300, doi. 10.1002/ajmg.a.36654
By:
- Beets, Lex;
- Rodríguez‐Fonseca, Cristina;
- Hennekam, Raoul C.
Publication type:
Article
Maternal exposure to methotrexate and birth defects: A population-based study.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2212, doi. 10.1002/ajmg.a.36625
By:
- Dawson, April L.;
- Riehle‐Colarusso, Tiffany;
- Reefhuis, Jennita;
- Arena, J. Fernando
Publication type:
Article
A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2385, doi. 10.1002/ajmg.a.36636
By:
- Lazier, Joanna;
- Chernos, Judy;
- Lowry, R. Brian
Publication type:
Article
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2391, doi. 10.1002/ajmg.a.36647
By:
- Lindy, Amanda S.;
- Bupp, Caleb P.;
- McGee, Stephen J.;
- Steed, Erin;
- Stevenson, Roger E.;
- Basehore, Monica J.;
- Friez, Michael J.
Publication type:
Article
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2294, doi. 10.1002/ajmg.a.36629
By:
- Londin, Eric R.;
- Adijanto, Jeffrey;
- Philp, Nancy;
- Novelli, Antonio;
- Vitale, Emilia;
- Perria, Chiara;
- Serra, Gigliola;
- Alesi, Viola;
- Surrey, Saul;
- Fortina, Paolo
Publication type:
Article
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2351, doi. 10.1002/ajmg.a.36620
By:
- Edwards, Jonathan J.;
- Martinelli, Simone;
- Pannone, Luca;
- Lo, Ivan Fai‐Man;
- Shi, Lisong;
- Edelmann, Lisa;
- Tartaglia, Marco;
- Luk, Ho‐Ming;
- Gelb, Bruce D.
Publication type:
Article
In this issue.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. x, doi. 10.1002/ajmg.a.36734
Publication type:
Article
Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2378, doi. 10.1002/ajmg.a.36631
By:
- Meloni, Vera Ayres;
- Guilherme, Roberta Santos;
- Oliveira, Mariana Moyses;
- Migliavacca, Michele;
- Takeno, Sylvia Satomi;
- Sobreira, Nara Lygia Macena;
- de Fatima Faria Soares, Maria;
- de Mello, Claudia Berlim;
- Melaragno, Maria Isabel
Publication type:
Article
Table of Contents, Volume 164A, Number 9, September 2014.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. fm i, doi. 10.1002/ajmg.a.36745
Publication type:
Article
Far from the tree: Parents, children, and the search for identity by Andrew Solomon.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2412, doi. 10.1002/ajmg.a.36642
By:
- Nowaczyk, Małgorzata J.M.
Publication type:
Article
A double-blind randomized controlled trial of oxytocin nasal spray in Prader Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2232, doi. 10.1002/ajmg.a.36653
By:
- Einfeld, Stewart L.;
- Smith, Ellie;
- McGregor, Iain S.;
- Steinbeck, Kate;
- Taffe, John;
- Rice, Lauren J.;
- Horstead, Siân K.;
- Rogers, Naomi;
- Hodge, M. Antoinette;
- Guastella, Adam J.
Publication type:
Article
Association between macroorchidism and intelligence in FMR1 premutation carriers.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2206, doi. 10.1002/ajmg.a.36624
By:
- Lozano, Reymundo;
- Summers, Scott;
- Lozano, Cristina;
- Mu, Yi;
- Hessl, David;
- Nguyen, Danh;
- Tassone, Flora;
- Hagerman, Randi
Publication type:
Article
A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2388, doi. 10.1002/ajmg.a.36635
By:
- Ozawa, Tadashi;
- Koide, Reiji;
- Nakata, Yasuhiro;
- Saitsu, Hirotomo;
- Matsumoto, Naomichi;
- Takahashi, Kazushi;
- Nakano, Imaharu;
- Orimo, Satoshi
Publication type:
Article
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2310, doi. 10.1002/ajmg.a.36646
By:
- Gos, Monika;
- Fahiminiya, Somayyeh;
- Poznański, Jarosław;
- Klapecki, Jakub;
- Obersztyn, Ewa;
- Piotrowicz, Małgorzata;
- Wierzba, Jolanta;
- Posmyk, Renata;
- Bal, Jerzy;
- Majewski, Jacek
Publication type:
Article
Eight year follow-up of an epidemic of sirenomelia in Cali, Colombia.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2403, doi. 10.1002/ajmg.a.36400
By:
- Saldarriaga, Wilmar;
- Isaza, Carolina;
- Castilla, Eduardo E.
Publication type:
Article
Skin findings in Williams syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2217, doi. 10.1002/ajmg.a.36628
By:
- Kozel, Beth A.;
- Bayliss, Susan J.;
- Berk, David R.;
- Waxler, Jessica L.;
- Knutsen, Russell H.;
- Danback, Joshua R.;
- Pober, Barbara R.
Publication type:
Article
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2317, doi. 10.1002/ajmg.a.36668
By:
- Nampoothiri, Sheela;
- Yesodharan, Dhanya;
- Sainulabdin, Gazel;
- Narayanan, Dhanyalakshmi;
- Padmanabhan, Laxmi;
- Girisha, Katta Mohan;
- Cathey, Sara S.;
- De Paepe, Anne;
- Malfait, Fransiska;
- Syx, Delfien;
- Hennekam, Raoul C.;
- Bonafe, Luisa;
- Unger, Sheila;
- Superti‐Furga, Andrea
Publication type:
Article
The Habsburg Jaw-Re-examined.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2263, doi. 10.1002/ajmg.a.36639
By:
- Peacock, Zachary S.;
- Klein, Katherine P.;
- Mulliken, John B.;
- Kaban, Leonard B.
Publication type:
Article
The historical Coffin-Lowry syndrome family revisited: Identification of two novel mutations of RPS6KA3 in three male patients.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2172, doi. 10.1002/ajmg.a.36488
By:
- Nishimoto, Hiromi Koso;
- Ha, Kyungsoo;
- Jones, Julie R.;
- Dwivedi, Alka;
- Cho, Hyun‐Min;
- Layman, Lawrence C.;
- Kim, Hyung‐Goo
Publication type:
Article
Newborn bloodspot retention reinstated in minnesota.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. viii, doi. 10.1002/ajmg.a.36733
Publication type:
Article
Are 22q11.2 distal deletions associated with math difficulties?
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2256, doi. 10.1002/ajmg.a.36649
By:
- Carvalho, Maria Raquel Santos;
- Vianna, Gabrielle;
- Oliveira, Lívia de Fátima Silva;
- Costa, Annelise Julio;
- Pinheiro‐Chagas, Pedro;
- Sturzenecker, Rosane;
- Zen, Paulo Ricardo Gazzola;
- Rosa, Rafael Fabiano Machado;
- de Aguiar, Marcos José Burle;
- Haase, Vitor Geraldi
Publication type:
Article
Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2370, doi. 10.1002/ajmg.a.36630
By:
- Kantaputra, Piranit Nik;
- Kaewgahya, Massupa;
- Wiwatwongwana, Atchareeya;
- Wiwatwongwana, Damrong;
- Sittiwangkul, Rekwan;
- Iamaroon, Anak;
- Dejkhamron, Prapai
Publication type:
Article
American Journal of Medical Genetics Part A: Volume 164A, Number 9, September 2014.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. C1, doi. 10.1002/ajmg.a.36744
Publication type:
Article
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2287, doi. 10.1002/ajmg.a.36641
By:
- Mumm, Steven;
- Huskey, Margaret;
- Duan, Shenghui;
- Wenkert, Deborah;
- Madson, Katherine L.;
- Gottesman, Gary S.;
- Nenninger, Angela R.;
- Laxer, Ronald M.;
- McAlister, William H.;
- Whyte, Michael P.
Publication type:
Article
Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2344, doi. 10.1002/ajmg.a.36612
By:
- Pingault, Veronique;
- Pierre‐Louis, Laurence;
- Chaoui, Asma;
- Verloes, Alain;
- Sarrazin, Elisabeth;
- Brandberg, Goran;
- Bondurand, Nadege;
- Uldall, Peter;
- Manouvrier‐Hanu, Sylvie
Publication type:
Article
Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: A case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2276, doi. 10.1002/ajmg.a.36652
By:
- Herlin, Morten;
- Højland, Allan T.;
- Petersen, Michael B.
Publication type:
Article
A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2187, doi. 10.1002/ajmg.a.36623
By:
- Langlois, Peter H.;
- Moffitt, Karen B.;
- Scheuerle, Angela E.
Publication type:
Article
QOL in caregivers of Japanese patients with Prader-Willi syndrome with reference to age and genotype.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2226, doi. 10.1002/ajmg.a.36634
By:
- Ihara, Hiroshi;
- Ogata, Hiroyuki;
- Sayama, Masayuki;
- Kato, Aya;
- Gito, Masao;
- Murakami, Nobuyuki;
- Kido, Yasuhiro;
- Nagai, Toshiro
Publication type:
Article
Congenital abnormalities and hepatoblastoma: A report from the Children's Oncology Group (COG) and the Utah Population Database (UPDB).
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2250, doi. 10.1002/ajmg.a.36638
By:
- Venkatramani, Rajkumar;
- Spector, Logan G.;
- Georgieff, Michael;
- Tomlinson, Gail;
- Krailo, Mark;
- Malogolowkin, Marcio;
- Kohlmann, Wendy;
- Curtin, Karen;
- Fonstad, Rachel K.;
- Schiffman, Joshua D.
Publication type:
Article
Whole ARX gene duplication is compatible with normal intellectual development.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2324, doi. 10.1002/ajmg.a.36564
By:
- Popovici, Cornel;
- Busa, Tiffany;
- Boute, Odile;
- Thuresson, Ann‐Charlotte;
- Perret, Odile;
- Sigaudy, Sabine;
- Södergren, Tommy;
- Andrieux, Joris;
- Moncla, Anne;
- Philip, Nicole
Publication type:
Article
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2328, doi. 10.1002/ajmg.a.36678
By:
- Bayram, Yavuz;
- Pehlivan, Davut;
- Karaca, Ender;
- Gambin, Tomasz;
- Jhangiani, Shalini N.;
- Erdin, Serkan;
- Gonzaga‐Jauregui, Claudia;
- Wiszniewski, Wojciech;
- Muzny, Donna;
- Elcioglu, Nursel H.;
- Yildirim, M. Selman;
- Bozkurt, Banu;
- Zamani, Ayse Gul;
- Boerwinkle, Eric;
- Gibbs, Richard A.;
- Lupski, James R.
Publication type:
Article