Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 8

Results: 54

Duplication of AKT 3 as a cause of macrocephaly in duplication 1q43q44.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2016, doi. 10.1002/ajmg.a.35999

By:

Wang, David;
Zeesman, Susan;
Tarnopolsky, Mark A.;
Nowaczyk, Małgorzata J.M.

Publication type:

Article

The 'megalencephaly-capillary malformation' (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2115, doi. 10.1002/ajmg.a.35940

By:

Mirzaa, Ghayda M.;
Dobyns, William B.

Publication type:

Article

Another patient with 12q13 microduplication Another patient with 12q13 microduplication.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2004, doi. 10.1002/ajmg.a.35991

By:

Bertoli, M.;
Alesi, V.;
Gullotta, F.;
Zampatti, S.;
Abate, M.R.;
Palmieri, C.;
Novelli, A.;
Frontali, M.;
Nardone, A. M.

Publication type:

Article

Book review.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2108, doi. 10.1002/ajmg.a.35995

By:

Opitz, John M.

Publication type:

Article

An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1961, doi. 10.1002/ajmg.a.36074

By:

Vernersson Lindahl, Emma;
Garcia, Elvin L.;
Mills, Alea A.

Publication type:

Article

Table of Contents, Volume 161A, Number 8, August 2013.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. fm i, doi. 10.1002/ajmg.a.36144
Publication type:: Article

Supreme court strikes down certain gene patents.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. x, doi. 10.1002/ajmg.a.36137
Publication type:: Article

Dr. Peter Emil Becker and the Third Reich.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1983, doi. 10.1002/ajmg.a.36063

By:

Hill, Frank

Publication type:

Article

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1915, doi. 10.1002/ajmg.a.36030

By:

Püttmann, Lucia;
Stehr, HENning;
Garshasbi, Masoud;
Hu, Hao;
Kahrizi, Kimia;
Lipkowitz, Bettina;
Jamali, Payman;
Tzschach, Andreas;
Najmabadi, Hossein;
Ropers, Hans ‐ Hilger;
Musante, Luciana;
Kuss, Andreas W.

Publication type:

Article

Body mass index (BMI): The case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2110, doi. 10.1002/ajmg.a.35947

By:

Schulze, Kerry J.;
Alade, Yewande Adekemi;
McGready, John;
Hoover ‐ Fong, Julie E.

Publication type:

Article

High MMP-9 activity levels in fragile X syndrome are lowered by minocycline.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1897, doi. 10.1002/ajmg.a.36023

By:

Dziembowska, MagdalENa;
Pretto, Dalyir I.;
Janusz, Aleksandra;
Kaczmarek, Leszek;
Leigh, Mary JacENa;
Gabriel, NielsEN;
Durbin ‐ Johnson, Blythe;
Hagerman, Randi J.;
Tassone, Flora

Publication type:

Article

Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2027, doi. 10.1002/ajmg.a.36005

By:

Rankin, Julia;
Short, John;
TurnpENny, Peter;
Castle, Bruce;
Hanemann, C. Oliver

Publication type:

Article

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2056, doi. 10.1002/ajmg.a.36016

By:

Low, KarEN;
Smith, James;
Lee, Simon;
Newbury ‐ Ecob, Ruth

Publication type:

Article

A mutation in TGFB 3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys-dietz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2040, doi. 10.1002/ajmg.a.36056

By:

RiENhoff, Hugh Young;
Yeo, Chang ‐ Yeol;
Morissette, Rachel;
Khrebtukova, Irina;
Melnick, Jonathan;
Luo, Shujun;
LENg, Nan;
Kim, Yeon ‐ Jin;
Schroth, Gary;
Westwick, John;
Vogel, Hannes;
McDonnell, Nazli;
Hall, Judith G.;
Whitman, Malcolm

Publication type:

Article

Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2078, doi. 10.1002/ajmg.a.36027

By:

Shimada, Shino;
Okamoto, Nobuhiko;
Nomura, Shohei;
Fukui, Miho;
Shimakawa, Shuichi;
Sangu, Noriko;
Shimojima, Keiko;
Osawa, Makiko;
Yamamoto, Toshiyuki

Publication type:

Article

Empirical research on the ethics of genomic research.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2099, doi. 10.1002/ajmg.a.36067

By:

Middleton, Anna;
Parker, Michael;
Wright, Caroline F.;
Bragin, Eugene;
Hurles, Matthew E.

Publication type:

Article

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1929, doi. 10.1002/ajmg.a.36045

By:

Kalish, JENnifer M.;
Conlin, Laura K.;
Bhatti, Tricia R.;
Dubbs, Holly A.;
Harris, Mary Catherine;
Izumi, Kosuke;
Mostoufi ‐ Moab, Sogol;
Mulchandani, Surabhi;
Saitta, Sulagna;
States, Lisa J.;
Swarr, Daniel T.;
WilkENs, Alisha B.;
Zackai, Elaine H.;
Zelley, Kristin;
Bartolomei, Marisa S.;
Nichols, Kim E.;
Palladino, Andrew A.;
Spinner, Nancy B.;
Deardorff, Matthew A.

Publication type:

Article

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1853, doi. 10.1002/ajmg.a.35994

By:

Bartholdi, Deborah;
Asadollahi, Reza;
Oneda, Beatrice;
Schmitt ‐ Mechelke, Thomas;
Tonella, Paolo;
Baumer, Alessandra;
Rauch, Anita

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 161A, Number 8, August 2013.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. C1, doi. 10.1002/ajmg.a.36143
Publication type:: Article

Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2020, doi. 10.1002/ajmg.a.36000

By:

Tarnopolsky, Mark;
Meaney, Brandon;
Robinson, Brian;
Sheldon, Katherine;
Boles, Richard G.

Publication type:

Article

Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2047, doi. 10.1002/ajmg.a.36011

By:

Wilson, Brian T.;
JENsEN, Sacha A.;
McAnulty, Ciaron P.;
BrENnan, Paul;
Handford, PENny A.

Publication type:

Article

Further delineation of the clinical spectrum in RNU 4 ATAC related microcephalic osteodysplastic primordial dwarfism type I.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1875, doi. 10.1002/ajmg.a.36009

By:

Abdel ‐ Salam, Ghada M.H.;
Abdel ‐ Hamid, Mohamed S.;
Hassan, Nihal A.;
Issa, Mahmoud Y.;
Effat, Laila;
Ismail, Samira;
Aglan, Mona S.;
Zaki, Maha S.

Publication type:

Article

Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1992, doi. 10.1002/ajmg.a.35918

By:

Torti, Erin E.;
Braddock, StephEN R.;
Bernreuter, KristEN;
Batanian, Jacqueline R.

Publication type:

Article

Camurati-engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2074, doi. 10.1002/ajmg.a.36022

By:

Collet, Corinne;
Laplanche, Jean ‐ Louis;
de Vernejoul, Marie ‐ Christine

Publication type:

Article

Federal committee supports adding Pompe disease to screening panel.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. ix, doi. 10.1002/ajmg.a.36136
Publication type:: Article

Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1985, doi. 10.1002/ajmg.a.35895

By:

Quintero ‐ Rivera, Fabiola;
Martinez ‐ Agosto, Julian A.

Publication type:

Article

Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2024, doi. 10.1002/ajmg.a.36004

By:

Rojnueangnit, Kitiwan;
Robin, Nathaniel H.

Publication type:

Article

Evaluating the frequency and characteristics of seizures in 142 Japanese patients with prader-willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2052, doi. 10.1002/ajmg.a.36015

By:

Takeshita, Eri;
Murakami, Nobuyuki;
Sakuta, Ryoichi;
Nagai, Toshiro

Publication type:

Article

A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1904, doi. 10.1002/ajmg.a.36026

By:

Fujita, Atsushi;
Suzumura, Hiroshi;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Saitsu, Hirotomo;
Harada, Naoki;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2066, doi. 10.1002/ajmg.a.36019

By:

Borovik, Lior;
Modaff, Peggy;
Waterham, Hans R.;
KrENtz, Anthony D.;
Pauli, Richard M.

Publication type:

Article

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1950, doi. 10.1002/ajmg.a.35960

By:

Vallespín, ElENa;
Palomares Bralo, María;
Mori, M. Ángeles;
Martín, Rubén;
García ‐ Miñaúr, Sixto;
Fernández, Luis;
de Torres, M. Luisa;
García ‐ Santiago, Fe;
Mansilla, ElENa;
Santos, Fernando;
M ‐ Montaño, Victoria E.;
Crespo, M. CarmEN;
Martín, Sol;
Martínez ‐ Glez, Victor;
Delicado, Alicia;
Lapunzina, Pablo;
Nevado, Julián

Publication type:

Article

Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2009, doi. 10.1002/ajmg.a.35993

By:

Vignoli, Aglaia;
Scornavacca, Giulia Federica;
Peron, Angela;
La Briola, Francesca;
Canevini, Maria Paola

Publication type:

Article

Myoclonic epilepsy in a child with 17q22-q23.1 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2036, doi. 10.1002/ajmg.a.36010

By:

Coppola, Antonietta;
Tostevin, Anna;
McTague, Amy;
Pressler, Ronit M.;
Cross, J. HelEN;
Sisodiya, Sanjay M.

Publication type:

Article

Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1829, doi. 10.1002/ajmg.a.36021

By:

Isidor, Bertrand;
Le Meur, Guylène;
Conti, Carole;
Caldagues, Emmanuelle;
Lainey, Elodie;
Launay, Elise;
Leclair, Marc David;
Le Francois, Thomas;
Pichon, Olivier;
Boisseau, Pierre;
Migraine, Audrey;
KerEN, Boris;
Caignec, Cédric Le;
Crow, Yanick J;
David, Albert

Publication type:

Article

Gene therapy shows potential as Usher syndrome treatment.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. xi, doi. 10.1002/ajmg.a.36175
Publication type:: Article

Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1923, doi. 10.1002/ajmg.a.36032

By:

Matoso, Eunice;
Melo, Joana B.;
Ferreira, Susana I.;
Jardim, Ana;
Castelo, Teresa M.;
Weise, Anja;
Carreira, Isabel M.

Publication type:

Article

A recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1980, doi. 10.1002/ajmg.a.36025

By:

Takagi, Masaki;
Sato, Shuhei;
Hara, Keiichi;
Tani, Chihiro;
Miyazaki, Osamu;
Nishimura, Gen;
Hasegawa, Tomonobu

Publication type:

Article

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2030, doi. 10.1002/ajmg.a.36007

By:

Ballesta ‐ Martínez, Maria Juliana;
López ‐ González, Vanesa;
Dulcet, Lluis ArmENgol;
Rodríguez ‐ Santiago, BENjamín;
Garcia ‐ Miñaúr, Sixto;
GuillEN ‐ Navarro, Encarna

Publication type:

Article

Orthopedic manifestations and implications for individuals with Costello syndrome Orthopedic manifestations and implications for individuals with Costello syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1940, doi. 10.1002/ajmg.a.36047

By:

Detweiler, Stacey;
Thacker, Mihir M.;
Hopkins, Elizabeth;
Conway, Laura;
Gripp, KarEN W.

Publication type:

Article

9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1882, doi. 10.1002/ajmg.a.36018

By:

Quinonez, Shane C.;
Park, John M.;
Rabah, Raja;
OwENs, Kailey M.;
Yashar, Beverly M.;
Glover, Thomas W.;
Keegan, Catherine E.

Publication type:

Article

Increased fracture risk and low bone mineral density in patients with loeys-dietz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1910, doi. 10.1002/ajmg.a.36029

By:

Tan, Eric W.;
Offoha, Roosevelt U.;
Oswald, GretchEN L.;
Skolasky, Richard L.;
Dewan, Ashvin K.;
ZhEN, Gehua;
Shapiro, Jay R.;
Dietz, Harry C.;
Cao, Xu;
Sponseller, Paul D.

Publication type:

Article

Risk terminology in biobanking and genetic research: What's in a name?

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2095, doi. 10.1002/ajmg.a.36069

By:

Quinn, GwENdolyn P.;
Castañeda, Heide;
Pal, Tuya;
Rice, Janique L.;
Meade, Cathy D.;
Gwede, ClemENt K.

Publication type:

Article

GAPO syndrome associated with vestibular dysfunction and hearing loss.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2102, doi. 10.1002/ajmg.a.35992

By:

Rapsomaniki, M.;
Chiarella, G.;
Mascaro, I.;
Ceravolo, F.;
Cassandro, E.;
Strisciuglio, P.;
Concolino, D.

Publication type:

Article

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1833, doi. 10.1002/ajmg.a.35996

By:

Curry, Cynthia J.;
RosENfeld, Jill A.;
Grant, Erica;
Gripp, KarEN W.;
Anderson, Carol;
Aylsworth, Arthur S.;
Saad, Taha BEN;
Chizhikov, Victor V.;
Dybose, Giedre;
Fagerberg, Christina;
Falco, Michelle;
Fels, Christina;
Fichera, Marco;
Graakjaer, Jesper;
Greco, Donatella;
Hair, JENnifer;
Hopkins, Elizabeth;
Huggins, MarlENe;
Ladda, Roger;
Li, Chumei

Publication type:

Article

Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2105, doi. 10.1002/ajmg.a.36031

By:

Balikcioglu, Pinar Gumus;
Gómez, Ricardo;
Vargas, Alfonso;
Aradhya, Swaroop;
Messiaen, Ludwine M.;
Lacassie, Yves

Publication type:

Article

Altered lipid metabolism in gastroschisis: A novel hypothesis.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1860, doi. 10.1002/ajmg.a.36002

By:

Jones, KENneth Lyons;
Weiss, LaurEN A.;
Hagey, Lee R.;
Gonzalez, Vanessa;
BENirschke, Kurt;
Chambers, Christina D.

Publication type:

Article

Richieri-costa and Pereira syndrome: Severe phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1999, doi. 10.1002/ajmg.a.35989

By:

Raskin, Salmo;
Souza, Marcela;
Medeiros, Mariana C.;
Manfron, Mayra;
Chong e Silva, Debora C.

Publication type:

Article

Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1972, doi. 10.1002/ajmg.a.36024

By:

Kim, Ok ‐ Hwa;
Jin, Dong ‐ Kyu;
Kosaki, Keisuke;
Kim, Jung ‐ Wook;
Cho, Sung Yoon;
Yoo, Won Joon;
Choi, In Ho;
Nishimura, GEN;
Ikegawa, Shiro;
Cho, Tae ‐ Joon

Publication type:

Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. xii, doi. 10.1002/ajmg.a.36138
Publication type:: Article

Non-trisomic homeobox gene expression during craniofacial development in the Ts65Dn mouse model of Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1866, doi. 10.1002/ajmg.a.36006

By:

Billingsley, Cherie N.;
AllEN, Jared R.;
Baumann, Douglas D.;
Deitz, Samantha L.;
Blazek, Joshua D.;
Newbauer, Abby;
Darrah, Andrew;
Long, Brad C.;
Young, Brandon;
ClemENt, Mark;
Doerge, R.W.;
Roper, Randall J.

Publication type:

Article