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
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
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
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
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
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
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