Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 12

Results: 58

ASD is an incorrect abbreviation for autism spectrum disorders.

Published in:

2011

By:

Cohen Jr., M. Michael

Publication type:

Editorial

Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3153, doi. 10.1002/ajmg.a.34327

By:

Aharoni, Sharon;
Harlalka, Gaurav;
Offiah, Amaka;
Shuper, Avinoam;
Crosby, Andrew H.;
McEntagart, Meriel

Publication type:

Article

A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2970, doi. 10.1002/ajmg.a.34309

By:

Park, Sung Won;
Lee, Seung-Tae;
Sohn, Young Bae;
Kim, Se Hwa;
Cho, Sung-Yoon;
Ko, Ah-ra;
Ji, Sun-Tae;
Kwon, Jeong-Yi;
Yeau, Sunghee;
Paik, Kyung-Hoon;
Kim, Jong-Won;
Jin, Dong-Kyu

Publication type:

Article

The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3054, doi. 10.1002/ajmg.a.34275

By:

Piccione, Maria;
Vecchio, Davide;
Cavani, Simona;
Malacarne, Michela;
Pierluigi, Mauro;
Corsello, Giovanni

Publication type:

Article

A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2956, doi. 10.1002/ajmg.a.34297

By:

Bird, Lynne M.;
Tan, Wen-Hann;
Bacino, Carlos A.;
Peters, Sarika U.;
Skinner, Steven A.;
Anselm, Irina;
Barbieri-Welge, Rene;
Bauer-Carlin, Astrid;
Gentile, Jennifer K.;
Glaze, Daniel G.;
Horowitz, Lucia T.;
Mohan, K. Naga;
Nespeca, Mark P.;
Sahoo, Trilochan;
Sarco, Dean;
Waisbren, Susan E.;
Beaudet, Arthur L.

Publication type:

Article

Craniofacial and oral features of Sotos syndrome: Differences in patients with submicroscopic deletion and mutation of NSD1 gene.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2933, doi. 10.1002/ajmg.a.33969

By:

Hirai, Norimitsu;
Matsune, Kensuke;
Ohashi, Hirofumi

Publication type:

Article

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: Phenotypic and genotypic findings.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3075, doi. 10.1002/ajmg.a.34300

By:

Hagen, Anja;
Bigl, Arndt;
Wand, Dorothea;
Klopocki, Eva;
Heller, Raoul;
Siekmeyer, Manuela;
Siekmeyer, Werner;
Kiess, Wieland;
Merkenschlager, Andreas

Publication type:

Article

Gene patent pool set to launch.

Published in:: 2011
Publication type:: Other

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3144, doi. 10.1002/ajmg.a.34311

By:

van Kogelenberg, Margriet;
Lerone, Margherita;
De Toni, Teresa;
Divizia, Maria T.;
de Brouwer, Arjan P.M.;
Veltman, Joris A.;
van Bokhoven, Hans;
Robertson, Stephen P.

Publication type:

Article

Minimal genotype-phenotype correlation for small deletions within distal 1p36.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3164, doi. 10.1002/ajmg.a.34333

By:

Buck, A.;
du Souich, C.;
Boerkoel, Cornelius F.

Publication type:

Article

Two large-scale surveys on community attitudes toward an opt-out biobank.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2982, doi. 10.1002/ajmg.a.34304

By:

Brothers, Kyle B.;
Morrison, Daniel R.;
Clayton, Ellen W.

Publication type:

Article

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3095, doi. 10.1002/ajmg.a.34326

By:

Lin, Dar-Shong;
Chang, Jui-Hsing;
Liu, Hsuan-Liang;
Wei, Chin-Hung;
Yeung, Chun-Yan;
Ho, Che-Sheng;
Shu, Chyong-Hsin;
Chiang, Ming-Fu;
Chuang, Chih-Kuang;
Huang, Yu-Wen;
Wu, Tsu-Yen;
Jian, Yuan-Ren;
Huang, Zon-Darr;
Lin, Shuan-Pei

Publication type:

Article

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.

Published in:

2011

By:

Jenkinson, Emma M.;
Kingston, Helen;
Urquhart, Jill;
Khan, Naz;
Melville, Athalie;
Swinton, Martin;
Crow, Yanick J.;
Davis, Julian R.E.;
Trump, Dorothy;
Newman, William G.

Publication type:

Other

Abbreviations and terminology surrounding autism spectrum disorders and intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2905, doi. 10.1002/ajmg.a.34319

By:

Carey, John C.

Publication type:

Article

A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3071, doi. 10.1002/ajmg.a.34296

By:

Umaña, Luis A.;
Magoulas, Pilar;
Bi, Weimin;
Bacino, Carlos A.

Publication type:

Article

Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2925, doi. 10.1002/ajmg.a.33858

By:

Tonoki, Hidefumi;
Harada, Naoki;
Shimokawa, Osamu;
Yosozumi, Ayako;
Monzaki, Kadomi;
Satoh, Kohei;
Kosaki, Rika;
Sato, Atsushi;
Matsumoto, Naomichi;
Iizuka, Susumu

Publication type:

Article

Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3025, doi. 10.1002/ajmg.a.33784

By:

Martinez, Hugo R.;
Pignatelli, Ricardo;
Belmont, John W.;
Craigen, William J.;
Jefferies, John L.

Publication type:

Article

Short stature due to 15q26 microdeletion involving IGF1R: Report of an additional case and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3139, doi. 10.1002/ajmg.a.34310

By:

Rudaks, Laura I.;
Nicholl, Jillian K.;
Bratkovic, Drago;
Barnett, Christopher P.

Publication type:

Article

Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3090, doi. 10.1002/ajmg.a.34332

By:

Mortani Barbosa, Eduardo J.;
Pyeritz, Reed E.;
Litt, Harold;
Desjardins, Benoit

Publication type:

Article

The mall test (or fun with a dysmorphologist).

Published in:

2011

By:

Robin, Nathaniel H.

Publication type:

Other

Objective assessment of nasality in flemish adults with neurofibromatosis type 1.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2974, doi. 10.1002/ajmg.a.34314

By:

Cosyns, Marjan;
Mortier, Geert;
Janssens, Sandra;
Claes, Kathleen;
Van Borsel, John

Publication type:

Article

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3067, doi. 10.1002/ajmg.a.34291

By:

Strobl-Wildemann, Gertrud;
Kalscheuer, Vera M.;
Hu, Hao;
Wrogemann, Klaus;
Ropers, Hans-Hilger;
Tzschach, Andreas

Publication type:

Article

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3002, doi. 10.1002/ajmg.a.34336

By:

Hisama, Fuki M.;
Lessel, Davor;
Leistritz, Dru;
Friedrich, Katrin;
McBride, Kim L.;
Pastore, Matthew T.;
Gottesman, Gary S.;
Saha, Bidisha;
Martin, George M.;
Kubisch, Christian;
Oshima, Junko

Publication type:

Article

A de novo 3.54 Mb deletion of 17q22-q23.1 associated with hydrocephalus: A case report and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3082, doi. 10.1002/ajmg.a.34307

By:

Khattab, Mona;
Xu, Fang;
Li, Peining;
Bhandari, Vineet

Publication type:

Article

Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3087, doi. 10.1002/ajmg.a.34318

By:

Sakthivel, Muthukumar;
Hughes, Stephen M.;
Riley, Phil;
Arkwright, Peter D.;
Mukherjee, Anindya;
Ramsden, Simon;
Urquhart, Jill;
Crow, Yanick J.

Publication type:

Article

Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3007, doi. 10.1002/ajmg.a.34329

By:

Schrier, Samantha A.;
Sherer, Ilana;
Deardorff, Matthew A.;
Clark, Dinah;
Audette, Lynn;
Gillis, Lynette;
Kline, Antonie D.;
Ernst, Linda;
Loomes, Kathleen;
Krantz, Ian D.;
Jackson, Laird G.

Publication type:

Article

Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3125, doi. 10.1002/ajmg.a.34295

By:

Prontera, Paolo;
Urciuoli, Riccardo;
Siliquini, Sabrina;
Macone, Sara;
Stangoni, Gabriela;
Donti, Emilio;
Cantisani, Teresa Anna;
Elia, Maurizio;
Belcastro, Vincenzo

Publication type:

Article

Clinical manifestations and management of four children with Pearson syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3063, doi. 10.1002/ajmg.a.34288

By:

Tumino, Manuela;
Meli, Concetta;
Farruggia, Piero;
La Spina, Milena;
Faraci, Maura;
Castana, Cinzia;
Di Raimondo, Vincenzo;
Alfano, Marivana;
Pittalà, Annarita;
Lo Nigro, Luca;
Russo, Giovanna;
Di Cataldo, Andrea

Publication type:

Article

Biological and epidemiological evidence of interaction of infant genotypes at Rs7205289 and maternal passive smoking in cleft palate.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2940, doi. 10.1002/ajmg.a.34254

By:

Li, Ling;
Zhu, Gui-quan;
Meng, Tian;
Shi, Jia-yu;
Wu, Jun;
Xu, Xue;
Shi, Bing

Publication type:

Article

Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3160, doi. 10.1002/ajmg.a.34331

By:

Oswald, Gretchen;
Lawson, Cathleen;
Raymond, Gerald;
Golden, W. Christopher;
Braverman, Nancy

Publication type:

Article

Mental retardation or intellectual disability? Time for a change.

Published in:

2011

By:

Fisch, Gene S.

Publication type:

Editorial

Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2997, doi. 10.1002/ajmg.a.34324

By:

Okamoto, Nobuhiko;
Tamura, Daisuke;
Nishimura, Gen;
Shimojima, Keiko;
Yamamoto, Toshiyuki

Publication type:

Article

Table of Contents, Volume 155, Number 12, December 2011.

Published in:: 2011
Publication type:: Other

Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3104, doi. 10.1002/ajmg.a.34335

By:

Serra, Valeria;
Castori, Marco;
Paradisi, Mauro;
Bui, Laura;
Melino, Gerry;
Terrinoni, Alessandro

Publication type:

Article

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2964, doi. 10.1002/ajmg.a.34302

By:

Schönewolf-Greulich, Bitten;
Ronan, Anne;
Ravn, Kristine;
Baekgaard, Peter;
Lodahl, Marianne;
Nielsen, Kate;
Rendtorff, Nanna D.;
Tranebjaerg, Lisbeth;
Brøndum-Nielsen, Karen;
Tümer, Zeynep

Publication type:

Article

Oculo-ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3122, doi. 10.1002/ajmg.a.34294

By:

Fickie, Matthew R.;
Stoler, Joan M.

Publication type:

Article

Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3136, doi. 10.1002/ajmg.a.34306

By:

Lacassie, Yves;
Storment, John M.;
Lazarin, Gabriel A.

Publication type:

Article

Erratum to 'Pseudoxanthoma Elasticum: Progress in Diagnostics and Research Towards Treatment Summary of the 2010 PXE International Research Meeting' Volume 155, Issue 7, July 2011, Pages: 1517-1526 Article First Published Online: 10 Jun 2011, DOI: 10.1002/ajmg.a.34067

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3176, doi. 10.1002/ajmg.a.34243

By:

Uitto, Jouni;
Bercovitch, Lionel;
Terry, Sharon F.;
Terry, Patrick F.

Publication type:

Article

Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research.

Published in:

2011

By:

Tabor, Holly K.;
Berkman, Benjamin E.;
Hull, Sara Chandros;
Bamshad, Michael J.

Publication type:

Editorial

A newborn with overlapping features of AEC and EEC syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3100, doi. 10.1002/ajmg.a.34328

By:

Celik, Tolga Hasan;
Buyukcam, Ayse;
Simsek-Kiper, Pelin Ozlem;
Utine, Gulen Eda;
Ersoy-Evans, Sibel;
Korkmaz, Ayse;
Yntema, Helger G.;
Bodugroglu, Koray;
Yurdakok, Murat

Publication type:

Article

Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12 → q12.1 and 19p12 → q12 regions in a child featuring multiple congenital anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3116, doi. 10.1002/ajmg.a.34346

By:

Fei, Xiang;
Qi, Manlong;
Zhao, Yanyan;
Li-Ling, Jesse

Publication type:

Article

8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3148, doi. 10.1002/ajmg.a.34317

By:

Izumi, Kosuke;
Mikesell, Heather;
Daber, Robert;
Chao, Grace;
Hutchinson, Anne L.;
Spinner, Nancy B.;
Parikh, Aditi S.

Publication type:

Article

Genetic alliance marks 25 years.

Published in:: 2011
Publication type:: Other

Patterns of prenatal alcohol exposure and associated non-characteristic minor structural malformations: A prospective study.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2949, doi. 10.1002/ajmg.a.34276

By:

Feldman, Haruna Sawada;
Jones, Kenneth Lyons;
Lindsay, Suzanne;
Slymen, Donald;
Klonoff-Cohen, Hillary;
Kao, Kelly;
Rao, Smriti;
Chambers, Christina

Publication type:

Article

Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3042, doi. 10.1002/ajmg.a.34173

By:

Zaki, Maha S.;
Sattar, Shifteh;
Massoudi, Rustin A.;
Gleeson, Joseph G.

Publication type:

Article

Ablepharon-Macrostomia syndrome-Extension of the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3060, doi. 10.1002/ajmg.a.34287

By:

Kallish, Staci;
McDonald-McGinn, Donna M.;
van Haelst, Mieke M.;
Bartlett, Scott P.;
Katowitz, James A.;
Zackai, Elaine H.

Publication type:

Article

A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3128, doi. 10.1002/ajmg.a.34298

By:

Al-Hassnan, Zuhair N.;
Al-Bakheet, AlBandary;
Abu-Dheim, Nada;
Al-Younes, Banan;
Colak, Dilek;
Kaya, Namik

Publication type:

Article

Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3030, doi. 10.1002/ajmg.a.33856

By:

Martinez, Hugo R.;
Niu, Mary C.;
Sutton, V. Reid;
Pignatelli, Ricardo;
Vatta, Matteo;
Jefferies, John L.

Publication type:

Article

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3050, doi. 10.1002/ajmg.a.34199

By:

Barroso, Eva;
Pérez-Carrizosa, Virginia;
García-Recuero, Ignacio;
Glucksman, Marc J.;
Wilkie, Andrew O.;
García-Minaur, Sixto;
Heath, Karen E.

Publication type:

Article

New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3035, doi. 10.1002/ajmg.a.34078

By:

Zaki, Maha S.;
Salam, Ghada M. H. Abdel;
Saleem, Sahar N.;
Dobyns, William B.;
Issa, Mahmoud Y.;
Sattar, Shifteh;
Gleeson, Joseph G.

Publication type:

Article