Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 2

Results: 40

A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 392, doi. 10.1002/ajmg.a.33802

By:

Verhoeven, Willem;
Egger, Jos;
Brunner, Han;
de Leeuw, Nicole

Publication type:

Article

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 403, doi. 10.1002/ajmg.a.33798

By:

Misceo, D.;
Rødningen, O.K.;
Barøy, T.;
Sorte, H.;
Mellembakken, J.R.;
Strømme, P.;
Fannemel, M.;
Frengen, E.

Publication type:

Article

Richieri-Costa-Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 322, doi. 10.1002/ajmg.a.33806

By:

Favaro, Francine Pinheiro;
Zechi-Ceide, Roseli Maria;
Alvarez, Camila Wenceslau;
Maximino, Luciana P.;
Antunes, Luis Fernando B. B.;
Richieri-Costa, Antonio;
Guion-Almeida, Maria Leine

Publication type:

Article

The Society of Craniofacial Genetics. Abstracts of the 2010 annual meeting.

Published in:

2011

By:

Sperber, Geoffrey H.

Publication type:

Other

Goldenhar syndrome phenotypes and 22q11 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 458, doi. 10.1002/ajmg.a.33754

By:

Balcı, Sevim;
Engiz, Özlem

Publication type:

Article

Arthrogryposis, perthes disease, and upward gaze palsy: A novel autosomal recessive syndromic form of arthrogryposis.

Published in:

2011

By:

Alkuraya, Fowzan S.

Publication type:

Other

Introduction to growth and development in craniofacial anomalies symposium and society of craniofacial genetics abstracts.

Published in:

2011

By:

Carey, John C.

Publication type:

Other

A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.

Published in:

2011

By:

Carter, Melissa T.;
Geraghty, Michael T.;
De La Cruz, Laura;
Reichard, R. Ross;
Boccuto, Luigi;
Schwartz, Charles E.;
Clericuzio, Carol L.

Publication type:

Other

Cerebral dysgenesis does not exclude OFD I syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 455, doi. 10.1002/ajmg.a.33812

By:

Thauvin-Robinet, Christel;
Lesca, Gaëtan;
Aral, Bernard;
Gigot, Nadège;
Lambert, Sandy;
Gueneau, Lucie;
Macca, Marina;
Franco, Brunella;
Huet, Frédéric;
Zabot, Marie-Thérèse;
Attié-Bitach, Tania;
Attia-Sobol, Jocelyne;
Faivre, Laurence

Publication type:

Article

The nosology of Richieri-Costa/Guion-Almeida syndrome(s).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 398, doi. 10.1002/ajmg.a.33805

By:

Castori, Marco;
Cascone, Piero;
Brinelli, Marco;
Iannetti, Giorgio;
Grammatico, Paola

Publication type:

Article

Department of justice opposes patents on isolated genes.

Published in:

2011

By:

Levenson, Deborah

Publication type:

Other

Potocki-Lupski syndrome: An inherited dup(17)(p11.2p11.2) with hypoplastic left heart.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 367, doi. 10.1002/ajmg.a.33845

By:

Yusupov, Roman;
Roberts, Amy E.;
Lacro, Ronald V.;
Sandstrom, Mary;
Ligon, Azra H.

Publication type:

Article

Cranial neural crest cells on the move: Their roles in craniofacial development.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 270, doi. 10.1002/ajmg.a.33702

By:

Cordero, Dwight R.;
Brugmann, Samantha;
Chu, Yvonne;
Bajpai, Ruchi;
Jame, Maryam;
Helms, Jill A.

Publication type:

Article

Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 418, doi. 10.1002/ajmg.a.33827

By:

Nimmakayalu, Manjunath;
Major, Heather;
Sheffield, Val;
Solomon, Donald H.;
Smith, Richard J.;
Patil, Shivanand R.;
Shchelochkov, Oleg A.

Publication type:

Article

Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 332, doi. 10.1002/ajmg.a.33793

By:

Garavelli, Livia;
Wischmeijer, Anita;
Rosato, Simonetta;
Gelmini, Chiara;
Reverberi, Sandro;
Sassi, Silvia;
Ferrari, Adriano;
Mari, Francesca;
Zabel, Bernhard;
Lausch, Ekkehart;
Unger, Sheila;
Superti-Furga, Andrea

Publication type:

Article

Prenatal diagnosis and molecular characterization of two constitutional rings derived from one chromosome 22.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 430, doi. 10.1002/ajmg.a.33654

By:

Gadji, Macoura;
Krabchi, Kada;
Langis, Paul;
Aboura, Azeddine;
Périgny, Martine;
Côté, Stéphanie;
Ferland, Mélissa;
Drouin, Régen

Publication type:

Article

In this issue.

Published in:: 2011
Publication type:: Other

Interparietal bone ( Os Incae) in craniosynostosis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 287, doi. 10.1002/ajmg.a.33800

By:

Wu, June K.;
Goodrich, James T.;
Amadi, Chiemezie C.;
Miller, Todd;
Mulliken, John B.;
Shanske, Alan L.

Publication type:

Article

Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 349, doi. 10.1002/ajmg.a.33811

By:

Cetin, Zafer;
Mihci, Ercan;
Yakut, Sezin;
Keser, Ibrahim;
Karauzum, Sibel Berker;
Luleci, Guven

Publication type:

Article

Fanconi-Bickel syndrome: Report of life history and successful pregnancy in an affected patient.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 415, doi. 10.1002/ajmg.a.33822

By:

Pena, Loren;
Charrow, Joel

Publication type:

Article

Back to the future: Proceedings from the 2010 NF Conference.

Published in:

2011

By:

Huson, Susan M.;
Acosta, Maria T.;
Belzberg, Allan J.;
Bernards, Andre;
Chernoff, Jonathan;
Cichowski, Karen;
Gareth Evans, D.;
Ferner, Rosalie E.;
Giovannini, Marco;
Korf, Bruce R.;
Listernick, Robert;
North, Kathryn N.;
Packer, Roger J.;
Parada, Luis F.;
Peltonen, Juha;
Ramesh, Vijaya;
Reilly, Karlyne M.;
Risner, John W.;
Schorry, Elizabeth K.;
Upadhyaya, Meena

Publication type:

Other

The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 363, doi. 10.1002/ajmg.a.33844

By:

Sanchez-Valle, Amarilis;
Pierpont, Mary Ella;
Potocki, Lorraine

Publication type:

Article

Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 434, doi. 10.1002/ajmg.a.33792

By:

Fruhman, Gary;
El-Hattab, Ayman W.;
Belmont, John W.;
Patel, Ankita;
Cheung, Sau Wai;
Sutton, V. Reid

Publication type:

Article

Clinical follow-up of young adults affected by Williams syndrome: Experience of 45 Italian patients.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 353, doi. 10.1002/ajmg.a.33819

By:

Bedeschi, Maria Francesca;
Bianchi, Vera;
Colli, Anna Maria;
Natacci, Federica;
Cereda, Anna;
Milani, Donatella;
Maitz, Silvia;
Lalatta, Faustina;
Selicorni, Angelo

Publication type:

Article

Federal advisory committee on genetics devises final recommendations.

Published in:: 2011
Publication type:: Other

Table of Contents, Volume 155, Number 2, February 2011.

Published in:: 2011
Publication type:: Other

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 343, doi. 10.1002/ajmg.a.33810

By:

Rooms, Liesbeth;
Vandeweyer, Geert;
Reyniers, Edwin;
van Mol, Kurt;
de Canck, Ilse;
Van der Aa, Nathalie;
Rossau, Rudi;
Kooy, R. Frank

Publication type:

Article

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 424, doi. 10.1002/ajmg.a.33821

By:

Chung, Brian H.Y.;
Stavropoulos, James;
Marshall, Christian R.;
Weksberg, Rosanna;
Scherer, Stephen W.;
Yoon, Grace

Publication type:

Article

Novel L1CAM splice site mutation in a young male with L1 syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 439, doi. 10.1002/ajmg.a.33803

By:

Rehnberg, Malin;
Jonasson, Jon;
Gunnarsson, Cecilia

Publication type:

Article

De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 442, doi. 10.1002/ajmg.a.33814

By:

Aradhya, Swaroop;
Smaoui, Nizar;
Marble, Michael;
Lacassie, Yves

Publication type:

Article

Why is the construction: Hypoplastic left heart 'syndrome' a misnomer? And: What is a syndrome, anyhow?

Published in:

2011

By:

Opitz, John M.;
Carey, John C.

Publication type:

Editorial

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 337, doi. 10.1002/ajmg.a.33807

By:

Clericuzio, Carol;
Harutyunyan, Karine;
Jin, Weidong;
Erickson, Robert P.;
Irvine, Alan D.;
McLean, W.H. Irwin;
Wen, Yaran;
Bagatell, Rochelle;
Griffin, Thomas A.;
Shwayder, Tor A.;
Plon, Sharon E.;
Wang, Lisa L.

Publication type:

Article

A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 409, doi. 10.1002/ajmg.a.33818

By:

Hiraki, Yoko;
Nishimura, Akira;
Hayashidani, Michiko;
Terada, Yoshiko;
Nishimura, Gen;
Okamoto, Nobuhiko;
Nishina, Sachiko;
Tsurusaki, Yoshinori;
Doi, Hiroshi;
Saitsu, Hirotomo;
Miyake, Noriko;
Matsumoto, Naomichi

Publication type:

Article

Cerebrovasculopathy in NF1 associated with ocular and scalp defects.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 380, doi. 10.1002/ajmg.a.33788

By:

Smith, Matt;
Heran, Manraj K.S.;
Connolly, Mary B.;
Heran, Harindar K.;
Friedman, J.M.;
Jett, Kimberly;
Lyons, Christopher J.;
Steinbok, Paul;
Armstrong, Linlea

Publication type:

Article

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 386, doi. 10.1002/ajmg.a.33799

By:

Zarate, Yuri A.;
Dwivedi, Alka;
Bartel, Frank O.;
Corning, Ken;
DuPont, Barbara R.

Publication type:

Article

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 372, doi. 10.1002/ajmg.a.33656

By:

Behnecke, Anne;
Hinderhofer, Katrin;
Bartsch, Oliver;
Nümann, Astrid;
Ipach, Marie-Luise;
Damatova, Natalja;
Haaf, Thomas;
Dufke, Andreas;
Riess, Olaf;
Moog, Ute

Publication type:

Article

A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 450, doi. 10.1002/ajmg.a.33458

By:

Lincoln-de-Carvalho, Carolina R.;
Vicente, Fabíola M.P.;
Vieira, Társis A.P.;
de Mello, Maricilda P.;
Marques-de-Faria, Antonia P.

Publication type:

Article

In Memoriam Ihsan Dogramacı (1915-2010).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 295, doi. 10.1002/ajmg.a.33469

By:

Balcı, Sevim

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 155, Number 2, February 2011.

Published in:: 2011
Publication type:: Other

De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 445, doi. 10.1002/ajmg.a.33820

By:

Schramm, Charlotte;
Draaken, Markus;
Bartels, Enrika;
Boemers, Thomas M.;
Schmiedeke, Eberhard;
Grasshoff-Derr, Sabine;
Märzheuser, Stefanie;
Hosie, Stuart;
Holland-Cunz, Stefan;
Baudisch, Friederike;
Priebe, Lutz;
Hoffmann, Per;
Zink, Alexander M.;
Engels, Hartmut;
Brockschmidt, Felix F.;
Aretz, Stefan;
Nöthen, Markus M.;
Ludwig, Michael;
Reutter, Heiko

Publication type:

Article