Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 3

Results: 42

American Journal of Medical Genetics Part A: Volume 155, Number 3, March 2011.

Published in:: 2011
Publication type:: Other

Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 642, doi. 10.1002/ajmg.a.33860

By:

Jun, Kyung Ran;
Seo, Eul-Ju;
Lee, Jin-Ok;
Yoo, Han-Wook;
Park, In-Sook;
Yoon, Hye-Kyung

Publication type:

Article

Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 622, doi. 10.1002/ajmg.a.33831

By:

van den Brand, Michiel;
Flucke, Uta E.;
Bult, Peter;
Weemaes, Corry M.R.;
van Deuren, Marcel

Publication type:

Article

New test catches most Turner syndrome cases.

Published in:

2011

By:

Levenson, Deborah

Publication type:

Other

Alu-mediated recombination in the HAX1 gene as the molecular basis of severe congenital neutropenia.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 660, doi. 10.1002/ajmg.a.33893

By:

Kurnikova, Maria;
Dinova, Evgeniya;
Shagina, Irina;
Shagin, Dmitriy

Publication type:

Article

Erratum: Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 666, doi. 10.1002/ajmg.a.33949

By:

Campbell, Colleen A.;
Della Santina, Charley C.;
Meyer, Nicole C.;
Smith, Nancy B.;
Myrie, Oluwaseun A.;
Stone, Edwin M.;
Fukushima, Kuni;
Califano, Joseph;
Carey, John P.;
Hansen, Marlan R.;
Gantz, Bruce J.;
Minor, Lloyd B.;
Smith, Richard J.H.

Publication type:

Article

Associated malformations among infants with neural tube defects.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 565, doi. 10.1002/ajmg.a.33886

By:

Stoll, Claude;
Dott, Beatrice;
Alembik, Yves;
Roth, Marie-Paule

Publication type:

Article

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 486, doi. 10.1002/ajmg.a.33857

By:

Lin, Angela E.;
Alexander, Mark E.;
Colan, Steven D.;
Kerr, Bronwyn;
Rauen, Katherine A.;
Noonan, Jacqueline;
Baffa, Jeanne;
Hopkins, Elizabeth;
Sol-Church, Katia;
Limongelli, Giuseppe;
Digilio, Maria Christina;
Marino, Bruno;
Innes, A. Micheil;
Aoki, Yoko;
Silberbach, Michael;
Delrue, Marie-Ange;
White, Susan M.;
Hamilton, Robert M.;
O'Connor, William;
Grossfeld, Paul D.

Publication type:

Article

A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 638, doi. 10.1002/ajmg.a.33839

By:

Aypar, Ebru;
Yildirim, M. Selman;
Sert, Ahmet;
Ciftci, Ilhan;
Odabas, Dursun

Publication type:

Article

Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 519, doi. 10.1002/ajmg.a.33446

By:

Basuta, Kirin;
Narcisa, Vivien;
Chavez, Alyssa;
Kumar, Madhur;
Gane, Louise;
Hagerman, Randi;
Tassone, Flora

Publication type:

Article

CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 605, doi. 10.1002/ajmg.a.33787

By:

Papadopoulou, Eleftheria;
Sifakis, Stavros;
Sol-Church, Katia;
Klein-Zighelboim, Eva;
Stabley, Deborah L.;
Raissaki, Maria;
Gripp, Karen W.;
Kalmanti, Maria

Publication type:

Article

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 582, doi. 10.1002/ajmg.a.33318

By:

Ruggieri, Martino;
Mastrangelo, Mario;
Spalice, Alberto;
Mariani, Rosanna;
Torrente, Isabella;
Polizzi, Agata;
Bottillo, Irene;
Di Biase, Claudio;
Iannetti, Paola

Publication type:

Article

Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 555, doi. 10.1002/ajmg.a.33874

By:

Hartman, Robert J.;
Riehle-Colarusso, Tiffany;
Lin, Angela;
Frías, Jaime L.;
Patel, Sonali S.;
Duwe, Kara;
Correa, Adolfo;
Rasmussen, Sonja A.

Publication type:

Article

Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 508, doi. 10.1002/ajmg.a.33885

By:

Scurr, Ingrid;
Wilson, Louise;
Lees, Melissa;
Robertson, Stephen;
Kirk, Edwin;
Turner, Anne;
Morton, John;
Kidd, Alexa;
Shashi, Vandana;
Stanley, Christy;
Berry, Margaret;
Irvine, Alan D.;
Goudie, David;
Turner, Claire;
Brewer, Carole;
Smithson, Sarah

Publication type:

Article

Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: Genotype-phenotype correlations.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 618, doi. 10.1002/ajmg.a.33816

By:

Slavin, Thomas P.;
Kuruvilla, Kevin;
Curtis, Christine A.;
Christ, Laurie A.;
Mitchell, Anna L.

Publication type:

Article

A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio-cerebello-cardiac (3C) syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 648, doi. 10.1002/ajmg.a.33742

By:

Al-Achkar, Walid;
Wafa, Abdulsamad;
Jarjour, Rami A.

Publication type:

Article

Linking chromosome abnormality and copy number variation.

Published in:

2011

By:

Cody, Jannine D.;
Hale, Daniel E.

Publication type:

Editorial

A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 656, doi. 10.1002/ajmg.a.33867

By:

Wu, Lingqian;
Meng, Dahua;
Zhou, Zhongmin;
Du, Juan;
Long, Zhigao;
Liang, Desheng

Publication type:

Article

Noncompaction is already known in DiGeorge anomaly from 22q11.2 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 662, doi. 10.1002/ajmg.a.33706

By:

Stöllberger, Claudia;
Finsterer, Josef

Publication type:

Article

A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 599, doi. 10.1002/ajmg.a.33717

By:

Eyaid, Wafaa;
Al-Qattan, Mohammad M.;
Al Abdulkareem, Ibrahim;
Fetaini, Nouf;
Al Balwi, Mohammed

Publication type:

Article

Ophthalmic findings in the Greek isolate of Cohen syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 534, doi. 10.1002/ajmg.a.33797

By:

Douzgou, Sofia;
Samples, John Randall;
Georgoudi, Nelli;
Petersen, Michael Bjorn

Publication type:

Article

Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 577, doi. 10.1002/ajmg.a.33104

By:

Horev, Liran;
Lees, Melissa M.;
Anteby, Irene;
Gomori, John M.;
Gunny, Roxana;
Ben-Neriah, Ziva

Publication type:

Article

Variable expression of neurofibromatosis 1 in monozygotic twins.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 478, doi. 10.1002/ajmg.a.33851

By:

Rieley, Margaret B.;
Stevenson, David A.;
Viskochil, David H.;
Tinkle, Brad T.;
Martin, Lisa J.;
Schorry, Elizabeth K.

Publication type:

Article

In this issue.

Published in:: 2011
Publication type:: Other

Genetic screening for Krabbe disease: Learning from the past and looking to the future.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 574, doi. 10.1002/ajmg.a.33815

By:

Macarov, Michal;
Zlotogora, Joel;
Meiner, Vardiella;
Khatib, Zinab;
Sury, Vivi;
Mengistu, Getu;
Bargal, Ruth;
Shmueli, Esther;
Meidan, Bela;
Zeigler, Marsha

Publication type:

Article

500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 652, doi. 10.1002/ajmg.a.33855

By:

Jakobsen, Linda P.;
Bugge, Merete;
Ullmann, Reinhard;
Schjerling, Charlotte K.;
Borup, Rehannah;
Hansen, Lars;
Eiberg, Hans;
Tommerup, Niels

Publication type:

Article

Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - New findings with neuroimaging.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 634, doi. 10.1002/ajmg.a.33837

By:

Szakszon, Katalin;
Berényi, Ervin;
Jakab, András;
Bessenyei, Beáta;
Balogh, Erzsébet;
Köbling, Tamás;
Szilvássy, Judit;
Knegt, Alida C.;
Oláh, Éva

Publication type:

Article

Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 612, doi. 10.1002/ajmg.a.33808

By:

Nelson, Marc;
Quinonez, Shane;
Ackley, Todd;
Iyer, Ram K.;
Innis, Jeffrey W.

Publication type:

Article

Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 526, doi. 10.1002/ajmg.a.33705

By:

Gripp, Karen W.;
Kuryan, Ranita;
Schnur, Rhonda E.;
Kothawala, Murtuza;
Davey, Lauren R.;
Antunes, Michael J.;
Reichard, Kirk W.;
Schneider, Adele;
Hall, Bryan D.

Publication type:

Article

Hajdu-Cheney syndrome with severe dural ectasia.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 595, doi. 10.1002/ajmg.a.33510

By:

Avela, Kristiina;
Valanne, Leena;
Helenius, Ilkka;
Mäkitie, Outi

Publication type:

Article

The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings.

Published in:

2011

By:

Dentici, Maria Lisa;
Mingarelli, Rita;
Dallapiccola, Bruno

Publication type:

Other

Craniomicromelic syndrome: First report in a male.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 586, doi. 10.1002/ajmg.a.33451

By:

Gambhir, Prakash S.;
Gambhir, Sunita

Publication type:

Article

Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 589, doi. 10.1002/ajmg.a.33499

By:

Kannu, Peter;
Perry, David;
Rees, Martin;
O'Donnell, Clare;
Aftimos, Salim

Publication type:

Article

Table of Contents, Volume 155, Number 3, March 2011.

Published in:: 2011
Publication type:: Other

Genotype-phenotype correlations in the genomic age: Concordance in monozygous twin pairs.

Published in:

2011

By:

Riccardi, Vincent M.

Publication type:

Editorial

Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 548, doi. 10.1002/ajmg.a.33861

By:

Alkalay, Avishai A.;
Guo, Tingwei;
Montagna, Cristina;
Digilio, M. Cristina;
Dallapiccola, Bruno;
Marino, Bruno;
Morrow, Bernice

Publication type:

Article

Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-Identification of a novel SLC34A3/NaPi-IIc mutation.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 626, doi. 10.1002/ajmg.a.33832

By:

Phulwani, Priya;
Bergwitz, Clemens;
Jaureguiberry, Graciana;
Rasoulpour, Majjid;
Estrada, Elizabeth

Publication type:

Article

Fetal genome sequenced from parents' blood samples.

Published in:: 2011
Publication type:: Other

Saving Grace: On the nature of syndromes and the missed Nobel.

Published in:

2011

By:

Wilson, Golder N.

Publication type:

Other

The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 540, doi. 10.1002/ajmg.a.33847

By:

Fecarotta, Simona;
Amitrano, Michele;
Romano, Alfonso;
Della Casa, Roberto;
Bruschini, Diana;
Astarita, Luca;
Parenti, Giancarlo;
Andria, Generoso

Publication type:

Article

Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 569, doi. 10.1002/ajmg.a.33887

By:

Miller, Jennifer L.;
Lynn, Christy H.;
Shuster, Jonathan;
Driscoll, Daniel J.

Publication type:

Article

Response to Drs. Stöllberger and Finsterer 'Noncompaction Is Already Known in DiGeorge Anomaly From 22q11.2 Deletion Syndrome'.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 664, doi. 10.1002/ajmg.a.33704

By:

Madan, Shobhit;
Madan-Khetarpal, Suneeta;
Park, Sang C.;
Surti, Urvashi;
Bailey, Ariel L.;
McConnell, Juliann;
Tadros, Sameh S.

Publication type:

Article