Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 7

Results: 46

Marfan syndrome database information unreliable for diagnoses.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. vii, doi. 10.1002/ajmg.a.37195
Publication type:: Article

Respectful communication by geneticists important for parents of children with undiagnosed disorders.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. viii, doi. 10.1002/ajmg.a.37196
Publication type:: Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. x, doi. 10.1002/ajmg.a.37197
Publication type:: Article

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1659, doi. 10.1002/ajmg.a.37070

By:

Baynam, Gareth;
Overkov, Angela;
Davis, Mark;
Mina, Kym;
Schofield, Lyn;
Allcock, Richard;
Laing, Nigel;
Cook, Matthew;
Dawkins, Hugh;
Goldblatt, Jack

Publication type:

Article

Children with 7q11.23 duplication syndrome: Psychological characteristics.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1436, doi. 10.1002/ajmg.a.37071

By:

Mervis, Carolyn B.;
Klein‐Tasman, Bonita P.;
Huffman, Myra J.;
Velleman, Shelley L.;
Pitts, C. Holley;
Henderson, Danielle R.;
Woodruff‐Borden, Janet;
Morris, Colleen A.;
Osborne, Lucy R.

Publication type:

Article

Community dissemination and genetic research: Moving beyond results reporting.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1542, doi. 10.1002/ajmg.a.37028

By:

Trinidad, Susan Brown;
Ludman, Evette J.;
Hopkins, Scarlett;
James, Rosalina D.;
Hoeft, Theresa J.;
Kinegak, Annie;
Lupie, Henry;
Kinegak, Ralph;
Boyer, Bert B.;
Burke, Wylie

Publication type:

Article

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1578, doi. 10.1002/ajmg.a.37073

By:

Kawano, Osamu;
Nakamura, Akie;
Morikawa, Shuntaro;
Uetake, Kimiaki;
Ishizu, Katsura;
Tajima, Toshihiro

Publication type:

Article

Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1582, doi. 10.1002/ajmg.a.37074

By:

Maziad, Asmaa S. Abu;
Seaver, Laurie H.

Publication type:

Article

Speech and language in a genotyped cohort of individuals with Kabuki syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1483, doi. 10.1002/ajmg.a.37026

By:

Morgan, Angela T.;
Mei, Cristina;
Da Costa, Annette;
Fifer, Joanne;
Lederer, Damien;
Benoit, Valérie;
McMillin, Margaret J.;
Buckingham, Kati J.;
Bamshad, Michael J.;
Pope, Kate;
White, Susan M.

Publication type:

Article

A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1493, doi. 10.1002/ajmg.a.37027

By:

Cianfaglione, Rina;
Clarke, Angus;
Kerr, Mike;
Hastings, Richard P.;
Oliver, Chris;
Felce, David

Publication type:

Article

Duplication of SOX3 (Xq27) may be a risk factor for Neural Tube Defects.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1676, doi. 10.1002/ajmg.a.37072

By:

Uguen, Arnaud;
Talagas, Matthieu;
Quémener‐Redon, Sylvia;
Marcorelles, Pascale;
De Braekeleer, Marc

Publication type:

Article

Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1501, doi. 10.1002/ajmg.a.37029

By:

Dikoglu, Esra;
Alfaiz, Ali;
Gorna, Maria;
Bertola, Deborah;
Chae, Jong Hee;
Cho, Tae‐Joon;
Derbent, Murat;
Alanay, Yasemin;
Guran, Tulay;
Kim, Ok‐Hwa;
Llerenar Jr, Juan C.;
Yamamoto, Guillerme;
Superti‐Furga, Giulio;
Reymond, Alexandre;
Xenarios, Ioannis;
Stevenson, Brian;
Campos‐Xavier, Belinda;
Bonafé, Luisa;
Superti‐Furga, Andrea;
Unger, Sheila

Publication type:

Article

Response to Phelan K. et al.: Letter to the Editor Regarding Disciglio et al: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1681, doi. 10.1002/ajmg.a.36894

By:

Mari, Francesca;
Novelli, Antonio;
Romano, Corrado;
Renieri, Alessandra

Publication type:

Article

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1587, doi. 10.1002/ajmg.a.36898

By:

Bourchany, A.;
Giurgea, I.;
Thevenon, J.;
Goldenberg, A.;
Morin, G.;
Bremond‐Gignac, D.;
Paillot, C.;
Lafontaine, P. O.;
Thouvenin, D.;
Massy, J.;
Duncombe, A.;
Thauvin‐Robinet, C.;
Masurel‐Paulet, A.;
Chehadeh, S. El;
Huet, F.;
Bron, A.;
Creuzot‐Garcher, C.;
Lyonnet, S.;
Faivre, L.

Publication type:

Article

De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1593, doi. 10.1002/ajmg.a.36775

By:

Hara, Munetsugu;
Ohba, Chihiro;
Yamashita, Yushiro;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Matsuishi, Toyojiro

Publication type:

Article

Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1621, doi. 10.1002/ajmg.a.37040

By:

Al‐Qattan, Mohammad M.;
Al‐Motairi, Muhammed I.;
Al Balwi, Mohammed A.

Publication type:

Article

Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1637, doi. 10.1002/ajmg.a.37041

By:

Gonfiantini, Michaela Veronika;
Armando, Marco;
Pucciarini, Maria Laura;
Macchiaiolo, Marina;
Buonuomo, Paola Sabrina;
Diociaiuti, Andrea;
Lepri, Francesca Romana;
Sirleto, Pietro;
Vicari, Stefano;
Bartuli, Andrea

Publication type:

Article

Ketotifen suppression of NF1 neurofibroma growth over 30 years.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1570, doi. 10.1002/ajmg.a.37045

By:

Riccardi, Vincent M.

Publication type:

Article

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1614, doi. 10.1002/ajmg.a.37046

By:

Orellana, Carmen;
Roselló, Mónica;
Monfort, Sandra;
Mayo, Sonia;
Oltra, Silvestre;
Martínez, Francisco

Publication type:

Article

Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1429, doi. 10.1002/ajmg.a.37048

By:

Peacock, Jacqueline D.;
Dykema, Karl J.;
Toriello, Helga V.;
Mooney, Marie R.;
Scholten, Donald J.;
Winn, Mary E.;
Borgman, Andrew;
Duesbery, Nicholas S.;
Hiemenga, Judith A.;
Liu, Cong;
Campbell, Stacey;
Nickoloff, Brian P.;
Williams, Bart O.;
Steensma, Matthew

Publication type:

Article

'CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases' American Journal of Medical Genetics Part A. 164:2557-2566, 2014.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1682, doi. 10.1002/ajmg.a.36860

By:

Wenger, Tara L.;
Harr, Margaret;
Ricciardi, Stefania;
Bhoj, Elizabeth;
Santani, Avni;
Adam, Margaret P.;
Barnett, Sarah S.;
Ganetzky, Rebecca;
McDonald‐McGinn, Donna M.;
Battaglia, Domenica;
Bigoni, Stefania;
Selicorni, Angelo;
Sorge, Giovanni;
Monica, Matteo Della;
Mari, Francesca;
Andreucci, Elena;
Romano, Silvia;
Cocchi, Guido;
Savasta, Salvatore;
Malbora, Baris

Publication type:

Article

The unprecedented recurrent diploid/tetraploid mosaicism of trisomy-18 (mixoploidy; 4n+18/2n+18): Clinical report.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1650, doi. 10.1002/ajmg.a.37062

By:

Ozler, Sibel;
Ersoy, Ali O.;
Oztas, Efser;
Topcu, Vehap;
Celen, Sevki;
Danisman, Nuri

Publication type:

Article

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1551, doi. 10.1002/ajmg.a.37063

By:

Ronzoni, Luisa;
Peron, Angela;
Bianchi, Vera;
Baccarin, Marco;
Guerneri, Silvana;
Silipigni, Rosamaria;
Lalatta, Faustina;
Bedeschi, Maria Francesca

Publication type:

Article

An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1560, doi. 10.1002/ajmg.a.37064

By:

Shugar, Andrea L.;
Shapiro, Jessica M.;
Cytrynbaum, Cheryl;
Hedges, Stephanie;
Weksberg, Rosanna;
Fishman, Leona

Publication type:

Article

Facing up to the challenges of advancing Craniofacial Research.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1451, doi. 10.1002/ajmg.a.37065

By:

Trainor, Paul A.;
Richtsmeier, Joan T.

Publication type:

Article

An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1644, doi. 10.1002/ajmg.a.37066

By:

Diehl, Adam;
Mu, Weiyi;
Batista, Denise;
Gunay‐Aygun, Meral

Publication type:

Article

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1654, doi. 10.1002/ajmg.a.37067

By:

Richer, Julie;
Daoud, Hussein;
Geier, Pavel;
Jarinova, Olga;
Carson, Nancy;
Feberova, Jana;
Nadya, Ben Fadel;
Unrau, Jennifer;
Bareke, Eric;
Khatchadourian, Karine;
Bulman, Dennis E;
Majewski, Jacek;
Boycott, Kym M;
Dyment, David A

Publication type:

Article

Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1518, doi. 10.1002/ajmg.a.37068

By:

Jett, Kimberly;
Nguyen, Rosa;
Arman, Darian;
Birch, Patricia;
Chohan, Harleen;
Farschtschi, Said;
Fuensterer, Carsten;
Kluwe, Lan;
Friedman, Jan M.;
Mautner, Victor F.

Publication type:

Article

Characterization of facial phenotypes of children with congenital hypopituitarism and their parents: A matched case-control study.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1525, doi. 10.1002/ajmg.a.37069

By:

Manousaki, Despoina;
Allanson, Judith;
Wolf, Lior;
Deal, Cheri

Publication type:

Article

The society for craniofacial genetics and developmental biology 37th annual meeting.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1455, doi. 10.1002/ajmg.a.37012

By:

Richtsmeier, Joan T.;
Jones, Marilyn C.;
Lozanoff, Scott;
Trainor, Paul A.

Publication type:

Article

Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1605, doi. 10.1002/ajmg.a.37015

By:

Mikstiene, Violeta;
Songailiene, Jurgita;
Byckova, Jekaterina;
Rutkauskiene, Giedre;
Jasinskiene, Edita;
Verkauskiene, Rasa;
Lesinskas, Eugenijus;
Utkus, Algirdas

Publication type:

Article

Maternal factors associated with the occurrence of gastroschisis.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1534, doi. 10.1002/ajmg.a.37016

By:

Baer, Rebecca J.;
Chambers, Christina D.;
Jones, Kenneth Lyons;
Shew, Stephen B.;
MacKenzie, Tippi C.;
Shaw, Gary M.;
Jelliffe‐Pawlowski, Laura L.

Publication type:

Article

CNKSR2 deletions: A novel cause of X-linked intellectual disability and seizures.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1668, doi. 10.1002/ajmg.a.36902

By:

Aypar, Umut;
Wirrell, Elaine C.;
Hoppman, Nicole L.

Publication type:

Article

Partial trisomy 21: A fifty-year follow-up visit.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1610, doi. 10.1002/ajmg.a.37031

By:

Hamm, J. Austin;
Carroll, Andrew J.;
Mikhail, Fady M.;
Korf, Bruce R.;
Finley, Wayne H.

Publication type:

Article

Pericardial effusion associated with hypothyroidism in an adult female with down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1674, doi. 10.1002/ajmg.a.37032

By:

Perttunen, Hilja;
Maack, Christoph

Publication type:

Article

Tetrasomy 18p: Report of cognitive and behavioral characteristics.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1474, doi. 10.1002/ajmg.a.37036

By:

O'Donnell, Louise;
Soileau, Bridgette T.;
Sebold, Courtney;
Gelfond, Jonathan;
Hale, Daniel E.;
Cody, Jannine D.

Publication type:

Article

Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1632, doi. 10.1002/ajmg.a.37039

By:

Antonini, Tanya N.;
Van Horn Kerne, Valerie;
Axelrad, Marni E.;
Karaviti, Lefkothea P.;
Schwartz, David D.

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 167A, Number 7, July 2015.

Published in:: 2015
Publication type:: Other

Table of Contents, Volume 167A, Number 7, July 2015.

Published in:: 2015
Publication type:: Other

Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1679, doi. 10.1002/ajmg.a.36788

By:

Phelan, Katy;
Boccuto, Luigi;
Rogers, R. Curtis;
Sarasua, Sara M.;
McDermid, Heather E.

Publication type:

Article

Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1627, doi. 10.1002/ajmg.a.37051

By:

Takagi, Masaki;
Shinohara, Hiroyuki;
Narumi, Satoshi;
Nishimura, Gen;
Hasegawa, Yukihiro;
Hasegawa, Tomonobu

Publication type:

Article

An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1671, doi. 10.1002/ajmg.a.37054

By:

Barone, Chiara;
Novelli, Antonio;
Capalbo, Anna;
del Grano, Antonella Cataliotti;
Giuffrida, Maria Grazia;
Indaco, Lara;
Bianca, Sebastiano

Publication type:

Article

Polymorphisms in folate pathway genes are not associated with somatic nondisjunction in turner syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1510, doi. 10.1002/ajmg.a.37055

By:

Bispo, Adriana Valéria Sales;
dos Santos, Luana Oliveira;
de Barros, Juliana Vieira;
Duarte, Andrea Rezende;
Araújo, Jacqueline;
Muniz, Maria Tereza Cartaxo;
Santos, Neide

Publication type:

Article

Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1565, doi. 10.1002/ajmg.a.37058

By:

Fairbrother, Laura C.;
Cytrynbaum, Cheryl;
Boutis, Paula;
Buiting, Karin;
Weksberg, Rosanna;
Williams, Charles

Publication type:

Article

Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1597, doi. 10.1002/ajmg.a.37003

By:

González‐del Pozo, María;
Bravo‐Gil, Nereida;
Méndez‐Vidal, Cristina;
Montero‐de‐Espinosa, Ignacio;
Millán, José M;
Dopazo, Joaquín;
Borrego, Salud;
Antiñolo, Guillermo

Publication type:

Article

Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1601, doi. 10.1002/ajmg.a.37004

By:

Hull, Sarah;
Arno, Gavin;
Thomson, Penelope;
Mutch, Stacey;
Webster, Andrew R;
Rai, Harjeet;
Hill, Virginia;
Moore, Anthony T

Publication type:

Article