Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 10

Results: 56

Remembered: F. Clarke Fraser.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2229, doi. 10.1002/ajmg.a.37091

By:

Opitz, John M.

Publication type:

Article

Severe acute abdomen caused by symptomatic Meckel's diverticulum in three children with trisomy 18.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2447, doi. 10.1002/ajmg.a.37098

By:

Hayashi, Anri;
Kumada, Tomohiro;
Furukawa, Oki;
Nozaki, Fumihito;
Hiejima, Ikuko;
Shibata, Minoru;
Kusunoki, Takashi;
Fujii, Tatsuya

Publication type:

Article

GLI2 mutations typically result in pituitary anomalies with or without postaxial polydactyly.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2491, doi. 10.1002/ajmg.a.37160

By:

Bear, Kelly A.;
Solomon, Benjamin D.

Publication type:

Article

Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2382, doi. 10.1002/ajmg.a.37162

By:

Takeda, Norifumi;
Morita, Hiroyuki;
Fujita, Daishi;
Inuzuka, Ryo;
Taniguchi, Yuki;
Imai, Yasushi;
Hirata, Yasunobu;
Komuro, Issei

Publication type:

Article

Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2485, doi. 10.1002/ajmg.a.37163

By:

Stark, Zornitza;
Francis, David;
Gaffney, Lydia;
Greenberg, Jacqueline;
Hills, Louise;
Li, Xin;
Godler, David E.;
Slater, Howard R.

Publication type:

Article

Novel and recurrent mutations in WISP3 and an atypical phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2481, doi. 10.1002/ajmg.a.37164

By:

Bhavani, Gandham SriLakshmi;
Shah, Hitesh;
Dalal, Ashwin B.;
Shukla, Anju;
Danda, Sumita;
Aggarwal, Shagun;
Phadke, Shubha R.;
Gupta, Neerja;
Kabra, Madhulika;
Gowrishankar, Kalpana;
Gupta, Anju;
Bhat, Meenakshi;
Puri, Ratna D.;
Bijarnia‐Mahay, Sunita;
Nampoothiri, Sheela;
Mohanasundaram, Kavitha M.;
Rajeswari, S.;
Kulkarni, Akhil M.;
Kulkarni, Muralidhar L.;
Ranganath, Prajnya

Publication type:

Article

Intestinal malrotation in Rubinstein-Taybi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2399, doi. 10.1002/ajmg.a.37167

By:

Stevens, Cathy A.

Publication type:

Article

When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2244, doi. 10.1002/ajmg.a.37168

By:

Bupp, Caleb P.;
Sarasua, Sara M.;
Dean, Jane H.;
Stevenson, Roger E.

Publication type:

Article

American society of human genetics updates guidance on genetic testing in children.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. viii, doi. 10.1002/ajmg.a.37357
Publication type:: Article

Young Italian clinician wins opitz award.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. ix, doi. 10.1002/ajmg.a.37358
Publication type:: Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. xi, doi. 10.1002/ajmg.a.37380
Publication type:: Article

Behavioral characteristics associated with 19p13.2 microdeletions.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2334, doi. 10.1002/ajmg.a.37180

By:

Welham, Alice;
Barth, Bursharan;
Moss, Joanna;
Penhallow, Jessica;
Sheth, Krupa;
Wilde, Lucy;
Wynn, Sarah;
Oliver, Chris

Publication type:

Article

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2344, doi. 10.1002/ajmg.a.37181

By:

do Rego Borges, Andrea;
Sá, Jamile;
Hoshi, Ryuichi;
Viena, Camila Sane;
Mariano, Lorena C.;
de Castro Veiga, Patricia;
Medrado, Alena Peixoto;
Machado, Renato Assis;
de Aquino, Sibele Nascimento;
Messetti, Ana Camila;
Spritz, Richard A.;
Coletta, Ricardo D.;
Reis, Silvia R. A.

Publication type:

Article

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2286, doi. 10.1002/ajmg.a.37182

By:

Hurd, Lauren;
Kirwin, Susan M.;
Boggs, Mary;
Mackenzie, William G.;
Bober, Michael B.;
Funanage, Vicky L.;
Duncan, Randall L.

Publication type:

Article

Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2411, doi. 10.1002/ajmg.a.37184

By:

Ganetzky, Rebecca;
Izumi, Kosuke;
Edmondson, Andrew;
Muraresku, Colleen Clarke;
Zackai, Elaine;
Deardorff, Matthew;
Ganesh, Jaya

Publication type:

Article

De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2418, doi. 10.1002/ajmg.a.37185

By:

Afifi, Hanan H.;
Fukai, Ryoko;
Miyake, Noriko;
Gamal el Din, Amina A.;
Eid, Maha M.;
Eid, Ola M.;
Thomas, Manal M.;
El‐Badry, Tarek H.;
Tosson, Angie M. S.;
Abdel‐Salam, Ghada M. H.;
Matsumoto, Naomichi

Publication type:

Article

Prevalence and clinical presentation of headache in a National Neurofibromatosis 1 Service and impact on quality of life.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2282, doi. 10.1002/ajmg.a.37186

By:

Afridi, Shazia K.;
Leschziner, Guy D.;
Ferner, Rosalie E.

Publication type:

Article

Mosaic paternal genome-wide uniparental isodisomy with down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2463, doi. 10.1002/ajmg.a.37187

By:

Darcy, Diana;
Atwal, Paldeep Singh;
Angell, Cathy;
Gadi, Inder;
Wallerstein, Robert

Publication type:

Article

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2366, doi. 10.1002/ajmg.a.37188

By:

Charif, Majida;
Titah, Salah Mohamed Cherif;
Roubertie, Agathe;
Desquiret‐Dumas, Valérie;
Gueguen, Naig;
Meunier, Isabelle;
Leid, Jean;
Massal, Frédéric;
Zanlonghi, Xavier;
Mercier, Jacques;
Raynaud de Mauverger, Eric;
Procaccio, Vincent;
de Camaret, Bénédicte Mousson;
Lenaers, Guy;
Hamel, Christian P.

Publication type:

Article

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2231, doi. 10.1002/ajmg.a.37189

By:

Parker, Michael J.;
Fryer, Alan E.;
Shears, Deborah J.;
Lachlan, Katherine L.;
McKee, Shane A.;
Magee, Alex C.;
Mohammed, Shehla;
Vasudevan, Pradeep C.;
Park, Soo‐Mi;
Benoit, Valérie;
Lederer, Damien;
Maystadt, Isabelle;
study, DDD;
FitzPatrick, David R.

Publication type:

Article

Response to Finsterer and Stöllberger 'Explanations for discordance of noncompaction in monozygotic twins'.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2495, doi. 10.1002/ajmg.a.37200

By:

Shieh, Joseph T.

Publication type:

Article

Explanations for discordance of noncompaction in monozygotic twins.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2493, doi. 10.1002/ajmg.a.37201

By:

Finsterer, Josef;
Stöllberger, Claudia

Publication type:

Article

Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2435, doi. 10.1002/ajmg.a.37202

By:

Akazawa, Yohei;
Inaba, Yuji;
Hachiya, Akira;
Motoki, Noriko;
Matsuzaki, Satoshi;
Minatoya, Kenji;
Morisaki, Takayuki;
Morisaki, Hiroko;
Kosaki, Kenjiro;
Kosho, Tomoki;
Koike, Kenichi

Publication type:

Article

Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2440, doi. 10.1002/ajmg.a.37203

By:

Overcash, Rachael T.;
Gibu, Christopher K.;
Jones, Marilyn C.;
Ramos, Gladys A.;
Andreasen, Tara S.

Publication type:

Article

Total body irradiation in a patient with fragile X syndrome for acute lymphoblastic leukemia in preparation for stem cell transplantation: A case report and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2444, doi. 10.1002/ajmg.a.37204

By:

Collins, D. T.;
Mannina, E. M.;
Mendonca, M.

Publication type:

Article

Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva ( ACVR1 c.772G>A; R258G): A report of two patients.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2265, doi. 10.1002/ajmg.a.37205

By:

Kaplan, Frederick S.;
Kobori, Joyce A.;
Orellana, Carmen;
Calvo, Inmaculada;
Rosello, Monica;
Martinez, Francisco;
Lopez, Berta;
Xu, Meiqi;
Pignolo, Robert J.;
Shore, Eileen M.;
Groppe, Jay C.

Publication type:

Article

Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2357, doi. 10.1002/ajmg.a.37206

By:

Gao, Xue;
Huang, Sha‐Sha;
Yuan, Yong‐Yi;
Wang, Guo‐Jian;
Xu, Jin‐Cao;
Ji, Yu‐Bin;
Han, Ming‐Yu;
Yu, Fei;
Kang, Dong‐Yang;
Lin, Xi;
Dai, Pu

Publication type:

Article

Glioblastoma multiforme in a child with tuberous sclerosis complex.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2388, doi. 10.1002/ajmg.a.37158

By:

Vignoli, Aglaia;
Lesma, Elena;
Alfano, Rosa Maria;
Peron, Angela;
Scornavacca, Giulia Federica;
Massimino, Maura;
Schiavello, Elisabetta;
Ancona, Silvia;
Cerati, Michele;
Bulfamante, Gaetano;
Gorio, Alfredo;
Canevini, Maria Paola

Publication type:

Article

In response to 'In utero exposure to methotrexate and risk of congenital malformations'.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2490, doi. 10.1002/ajmg.a.37151

By:

Dawson, April L.;
Riehle‐Colarusso, Tiffany;
Reefhuis, Jennita;
Arena, J. Fernando

Publication type:

Article

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2314, doi. 10.1002/ajmg.a.37152

By:

Milh, Mathieu;
Lacoste, Caroline;
Cacciagli, Pierre;
Abidi, Affef;
Sutera‐Sardo, Julie;
Tzelepis, Ilias;
Colin, Estelle;
Badens, Catherine;
Afenjar, Alexandra;
Coeslier, Anne Dieux;
Dailland, Thomas;
Lesca, Gaetan;
Philip, Nicole;
Villard, Laurent

Publication type:

Article

In utero exposure to methotrexate and risk of congenital malformations.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2488, doi. 10.1002/ajmg.a.37153

By:

Damkier, Per;
Kaplan, Yusuf Cem

Publication type:

Article

A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 ( INPPL1).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2470, doi. 10.1002/ajmg.a.37173

By:

Lee, Hane;
Nevarez, Lisette;
Lachman, Ralph S.;
Wilcox, William R.;
Krakow, Deborah;
Cohn, Daniel H.

Publication type:

Article

Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2451, doi. 10.1002/ajmg.a.37207

By:

Poelmans, Simon;
Kawamoto, Tatsuro;
Cristofoli, Francesca;
Politis, Constantinus;
Vermeesch, Joris;
Bailleul‐Forestier, Isabelle;
Hens, Greet;
Devriendt, Koenraad;
Verdonck, Anna;
Carels, Carine

Publication type:

Article

Report of a case of Raine syndrome and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2394, doi. 10.1002/ajmg.a.37159

By:

Seidahmed, Mohammed Zain;
Alazami, Anas M.;
Abdelbasit, Omer Bashir;
Al Hussein, Khalid;
Miqdad, Abeer M.;
Abu‐Sa'da, Omar;
Mustafa, Tareq;
Bahjat, Sarah;
Alkuraya, Fowzan S.

Publication type:

Article

Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2402, doi. 10.1002/ajmg.a.37171

By:

Murray, Susan B.;
Spangler, Brooke B.;
Helm, Benjamin M.;
Vergano, Samantha Schrier

Publication type:

Article

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2272, doi. 10.1002/ajmg.a.37172

By:

Burton, Barbara K.;
Berger, Kenneth I.;
Lewis, Gregory D.;
Tarnopolsky, Mark;
Treadwell, Marsha;
Mitchell, John J.;
Muschol, Nicole;
Jones, Simon A.;
Sutton, V. Reid;
Pastores, Gregory M.;
Lau, Heather;
Sparkes, Rebecca;
Genter, Fred;
Shaywitz, Adam J.;
Harmatz, Paul

Publication type:

Article

ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2376, doi. 10.1002/ajmg.a.37157

By:

Neuhann, Teresa M.;
Stegerer, Annette;
Riess, Angelika;
Blair, Edward;
Martin, Thomas;
Wieser, Stefanie;
Kläs, Rüdiger;
Bouman, Arjan;
Kuechler, Alma;
Rittinger, Olaf

Publication type:

Article

Enhancing genomic laboratory reports from the patients' view: A qualitative analysis.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2238, doi. 10.1002/ajmg.a.37174

By:

Stuckey, Heather;
Williams, Janet L.;
Fan, Audrey L.;
Rahm, Alanna Kulchak;
Green, Jamie;
Feldman, Lynn;
Bonhag, Michele;
Zallen, Doris T.;
Segal, Michael M.;
Williams, Marc S.

Publication type:

Article

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2478, doi. 10.1002/ajmg.a.37175

By:

Ben‐Omran, Tawfeg;
Alsulaiman, Reem;
Kamel, Hussein;
Shaheen, Ranad;
Alkuraya, Fowzan S.

Publication type:

Article

Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2459, doi. 10.1002/ajmg.a.37176

By:

Connor, Cody J.;
Shchelochkov, Oleg A.;
Ciliberto, Heather

Publication type:

Article

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2319, doi. 10.1002/ajmg.a.37177

By:

Stark, Zornitza;
Behrsin, Joanna;
Burgess, Trent;
Ritchie, Anna;
Yeung, Alison;
Tan, Tiong Y.;
Brown, Natasha J.;
Savarirayan, Ravi;
Patel, Neil

Publication type:

Article

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2406, doi. 10.1002/ajmg.a.37178

By:

Kehrer, Martin;
Schäferhoff, Karin;
Bonin, Michael;
Jauch, Anna;
Bevot, Andrea;
Tzschach, Andreas

Publication type:

Article

De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2327, doi. 10.1002/ajmg.a.37179

By:

Xiao, Bing;
Xu, Huihui;
Ye, Hui;
Hu, Qin;
Chen, Yingwei;
Qiu, Wenjuan

Publication type:

Article

Disclosure of psychiatric manifestations of 22q11.2 deletion syndrome in medical genetics: A 12-year retrospective chart review.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2350, doi. 10.1002/ajmg.a.37190

By:

Baughman, Serena Talcott;
Morris, Emily;
Jensen, Kimberly;
Austin, Jehannine

Publication type:

Article

Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2425, doi. 10.1002/ajmg.a.37191

By:

Takasawa, Kei;
Takishima, Shigeru;
Morioka, Chikako;
Nishioka, Masato;
Ohashi, Hirofumi;
Aoki, Yoko;
Shimohira, Masayuki;
Kashimada, Kenichi;
Morio, Tomohiro

Publication type:

Article

Corrigendum to 'Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation'.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2496, doi. 10.1002/ajmg.a.37192

By:

Ziats, Mark N.;
Comeaux, Matthew S.;
Yang, Yaping;
Scaglia, Fernando;
Elsea, Sarah H.;
Sun, Qin;
Beaudet, Arthur L.;
Schaaf, Christian P.

Publication type:

Article

Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2430, doi. 10.1002/ajmg.a.37193

By:

Sato, Takeshi;
Muroya, Koji;
Asakura, Yumi;
Yachie, Akihiro;
Nishimura, Gen;
Aida, Noriko;
Machida, Jiro;
Tanaka, Yukichi;
Hasegawa, Tomonobu;
Adachi, Masanori

Publication type:

Article

Clinical and molecular findings in a patient with 46,XX/47,XX,+14 mosaicism caused by postzygotic duplication of a paternally derived chromosome 14.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2474, doi. 10.1002/ajmg.a.37194

By:

Suzumori, Nobuhiro;
Kagami, Masayo;
Kumagai, Kyoko;
Goto, Shinobu;
Matsubara, Keiko;
Sano, Shinichiro;
Sugiura‐Ogasawara, Mayumi

Publication type:

Article

Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2251, doi. 10.1002/ajmg.a.37198

By:

Samango‐Sprouse, Carole;
Keen, Colleen;
Mitchell, Francie;
Sadeghin, Teresa;
Gropman, Andrea

Publication type:

Article

Beyond the Pale. Folklore, family and the mystery of our hidden genes by Emily Urquhart. Harper collins, Canada. ISBN: 9780062389169/10: 0062389165, 288 p.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2375, doi. 10.1002/ajmg.a.37199

By:

Nowaczyk, Malgorzata J.M.

Publication type:

Article