Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 1

Results: 44

Monosomy 21q22.11-q22.13 presenting as a Fanconi anemia phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 120, doi. 10.1002/ajmg.a.33801

By:

Byrd, Robert S.;
Zwerdling, Theodore;
Moghaddam, Billur;
Pinter, Joseph D.;
Steinfeld, Mary Beth

Publication type:

Article

Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 168, doi. 10.1002/ajmg.a.33760

By:

Nielsen, Sarah M.;
Rubinstein, Wendy S.;
Thull, Darcy L.;
Armstrong, Michaele J.;
Feingold, Eleanor;
Stang, Michael T.;
Gnarra, James R.;
Carty, Sally E.

Publication type:

Article

Genetic diseases in the Tunisian population.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 238, doi. 10.1002/ajmg.a.33771

By:

Romdhane, Lilia;
Abdelhak, Sonia

Publication type:

Article

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 164, doi. 10.1002/ajmg.a.33753

By:

Conti, Valerio;
Marini, Carla;
Mei, Davide;
Falchi, Melania;
Ferrari, Anna Rita;
Guerrini, Renzo

Publication type:

Article

Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from chromosome 5.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 192, doi. 10.1002/ajmg.a.33764

By:

Ohashi, Hiroyasu;
Suzumori, Kaoru;
Chisaka, Yasushi;
Sonta, Shinichi;
Kobayashi, Tomoko;
Aoki, Yoko;
Matsubara, Yoichi;
Sone, Michiko;
Shaffer, Lisa G.

Publication type:

Article

De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 126, doi. 10.1002/ajmg.a.33809

By:

Thevenon, Julien;
Callier, Patrick;
Thauvin-Robinet, Christel;
Mejean, Nathalie;
Falcon-Eicher, Sylvie;
Maynadie, Marc;
de Maistre, Emmanuel;
Bidot, Samuel;
Huet, Frédéric;
Beri-Dexheimer, Mylène;
Jonveaux, Philippe;
Mugneret, Francine;
Faivre, Laurence

Publication type:

Article

Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 113, doi. 10.1002/ajmg.a.33735

By:

Yamamoto, Toshiyuki;
Shimojima, Keiko;
Nishizawa, Tsutomu;
Matsuo, Mari;
Ito, Masahiro;
Imai, Katsumi

Publication type:

Article

Angelman syndrome: Mutations influence features in early childhood.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 81, doi. 10.1002/ajmg.a.33775

By:

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

Publication type:

Article

Table of Contents, Volume 155, Number 1, January 2011.

Published in:: 2011
Publication type:: Other

Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 215, doi. 10.1002/ajmg.a.33786

By:

Kibe, Tetsuya;
Mori, Yuka;
Okanishi, Tohru;
Shimojima, Keiko;
Yokochi, Kenji;
Yamamoto, Toshiyuki

Publication type:

Article

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 38, doi. 10.1002/ajmg.a.33757

By:

Vlangos, Christopher N.;
Siuniak, Amanda;
Ackley, Todd;
van Bokhoven, Hans;
Veltman, Joris;
Iyer, Ram;
Park, John M.;
Keppler-Noreuil, Kim;
Keegan, Catherine E.

Publication type:

Article

Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 228, doi. 10.1002/ajmg.a.33768

By:

Sripathomsawat, Warissara;
Tanpaiboon, Pranoot;
Heering, Jan;
Dötsch, Volker;
Hennekam, Raoul C.M.;
Kantaputra, Piranit

Publication type:

Article

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 58, doi. 10.1002/ajmg.a.33779

By:

Héron, Bénédicte;
Mikaeloff, Yann;
Froissart, Roseline;
Caridade, Guillaume;
Maire, Irène;
Caillaud, Catherine;
Levade, Thierry;
Chabrol, Brigitte;
Feillet, François;
Ogier, Hélène;
Valayannopoulos, Vassili;
Michelakakis, Helen;
Zafeiriou, Dimitrios;
Lavery, Lucy;
Wraith, Ed;
Danos, Olivier;
Heard, Jean-Michel;
Tardieu, Marc

Publication type:

Article

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 221, doi. 10.1002/ajmg.a.33515

By:

Cavani, Simona;
Prontera, Paolo;
Grasso, Marina;
Ardisia, Carmela;
Malacarne, Michela;
Gradassi, Cristina;
Cecconi, Massimiliano;
Mencarelli, Amedea;
Donti, Emilio;
Pierluigi, Mauro

Publication type:

Article

Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 50, doi. 10.1002/ajmg.a.33770

By:

de Camargo Pinto, Louise Lapagesse;
Maluf, Sharbel Weidner;
Leistner-Segal, Sandra;
Zimmer da Silva, Camila;
Brusius-Facchin, Ana;
Burin, Maira Graef;
Brustolin, Silvia;
Llerena, Juan;
Moraes, Lucia;
Vedolin, Leonardo;
Schuch, Alice;
Giugliani, Roberto;
Schwartz, Ida Vanessa Doederlein

Publication type:

Article

IGF1R variants associated with isolated single suture craniosynostosis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 91, doi. 10.1002/ajmg.a.33781

By:

Cunningham, Michael L.;
Horst, Jeremy A.;
Rieder, Mark J.;
Hing, Anne V.;
Stanaway, Ian B.;
Park, Sarah S.;
Samudrala, Ram;
Speltz, Matthew L.

Publication type:

Article

Book review of: The Troubled Dream of Genetic Medicine. By Keith Wailoo and Stephen Pemberton. The Johns Hopkins University Press, Baltimore, 2006. 249 p.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 268, doi. 10.1002/ajmg.a.33752

By:

Fraser, F.C.

Publication type:

Article

In this issue.

Published in:: 2011
Publication type:: Other

20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 186, doi. 10.1002/ajmg.a.33763

By:

Williams, P.G.;
Wetherbee, J.J.;
Rosenfeld, J.A.;
Hersh, J.H.

Publication type:

Article

Pregnancy as a proclamation of faith: Ultra-Orthodox Jewish women navigating the uncertainty of pregnancy and prenatal diagnosis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 69, doi. 10.1002/ajmg.a.33774

By:

Teman, Elly;
Ivry, Tsipy;
Bernhardt, Barbara A.

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 155, Number 1, January 2011.

Published in:: 2011
Publication type:: Other

The incidence of thrombocytopenia in children with Cornelia de Lange syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 33, doi. 10.1002/ajmg.a.33631

By:

Lambert, Michele P.;
Jackson, Laird G.;
Clark, Dinah;
Kaur, Mani;
Krantz, Ian D.;
Deardorff, Matthew A.

Publication type:

Article

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 98, doi. 10.1002/ajmg.a.33785

By:

Cossée, Mireille;
Faivre, Laurence;
Philippe, Christophe;
Hichri, Heifa;
de Saint-Martin, Anne;
Laugel, Vincent;
Bahi-Buisson, Nadia;
Lemaitre, Jean-François;
Leheup, Bruno;
Delobel, Bruno;
Demeer, Bénédicte;
Poirier, Karine;
Biancalana, Valérie;
Pinoit, Jean-Michel;
Julia, Sophie;
Chelly, Jamel;
Devys, Didier;
Mandel, Jean-Louis

Publication type:

Article

Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 141, doi. 10.1002/ajmg.a.33756

By:

Flynn, Maureen;
Zou, Ying S.;
Milunsky, Aubrey

Publication type:

Article

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 235, doi. 10.1002/ajmg.a.33778

By:

Ravenscroft, Jane C.;
Suri, Mohnish;
Rice, Gillian I.;
Szynkiewicz, Marcin;
Crow, Yanick J.

Publication type:

Article

Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 225, doi. 10.1002/ajmg.a.33639

By:

Maruotti, Giuseppe Maria;
Fabbrini, Floriana;
Napolitano, Raffaele;
Genesio, Rita;
Conti, Anna;
Mallia Milanes, Giovanna;
Mazzarelli, Laura Letizia;
Martinelli, Pasquale

Publication type:

Article

A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 180, doi. 10.1002/ajmg.a.33780

By:

Kayserili, Hülya;
Wollnik, Bernd;
Güven, Gamze;
Emiroğlu, Melike Ulubil;
Başerer, Nermin;
Uyguner, Z. Oya

Publication type:

Article

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 154, doi. 10.1002/ajmg.a.33751

By:

Bedoyan, Jirair K.;
Lesperance, Marci M.;
Ackley, Todd;
Iyer, Ramaswamy K.;
Innis, Jeffrey W.;
Misra, Vinod K.

Publication type:

Article

New research highlighted at ASHG meeting.

Published in:: 2011
Publication type:: Other

Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 174, doi. 10.1002/ajmg.a.33762

By:

Mark, Paul R.;
Torres-Martinez, Wilfredo;
Lachman, Ralph S.;
Weaver, David D.

Publication type:

Article

Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 1, doi. 10.1002/ajmg.a.33773

By:

Baker, Kate;
Northam, Gemma B.;
Chong, W.K.;
Banks, Tina;
Beales, Philip;
Baldeweg, Torsten

Publication type:

Article

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 106, doi. 10.1002/ajmg.a.33715

By:

Willemsen, Marjolein H.;
de Leeuw, Nicole;
Mercer, Catherine;
Eisenhauer, Helen;
Morris, Joanne;
Collinson, Morag N.;
Barber, John C.K.;
Lam, Stephen T.S.;
Lo, Ivan F.M.;
Rensen, Hanneke;
Ferwerda, Annemarie;
Hamel, Ben C.J.;
Kleefstra, Tjitske

Publication type:

Article

Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 14, doi. 10.1002/ajmg.a.33755

By:

Carter, Tonia C.;
Pangilinan, Faith;
Troendle, James F.;
Molloy, Anne M.;
VanderMeer, Julia;
Mitchell, Adam;
Kirke, Peadar N.;
Conley, Mary R.;
Shane, Barry;
Scott, John M.;
Brody, Lawrence C.;
Mills, James L.

Publication type:

Article

Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 130, doi. 10.1002/ajmg.a.33652

By:

Tohyama, Jun;
Kato, Mitsuhiro;
Kawasaki, Sari;
Harada, Naoki;
Kawara, Hiroki;
Matsui, Takeshi;
Akasaka, Noriyuki;
Ohashi, Tsukasa;
Kobayashi, Yu;
Matsumoto, Naomichi

Publication type:

Article

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 203, doi. 10.1002/ajmg.a.33766

By:

Cingöz, Sultan;
Bache, Iben;
Bjerglund, Lise;
Ropers, Hans-Hilger;
Tommerup, Niels;
Jensen, Hanne;
Brøndum-Nielsen, Karen;
Tümer, Zeynep

Publication type:

Article

Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?

Published in:

2011

By:

Phadke, Shubha R.;
Sharda, Sheetal;
Urquhart, Jill;
Jenkinson, Emma;
Chawala, Shobhit;
Trump, Dorothy

Publication type:

Other

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 207, doi. 10.1002/ajmg.a.33777

By:

Abdel-Salam, Ghada M. H.;
Flores-Sarnat, Laura;
El-Ruby, Mona O.;
Parboosingh, Jillian;
Bridge, Peter;
Eid, Maha M.;
El-Badry, Tarek H.;
Effat, Laila;
Curatolo, Paolo;
Temtamy, Samia A.

Publication type:

Article

Hoffman syndrome: New patients, new insights.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 149, doi. 10.1002/ajmg.a.33678

By:

Hügle, Boris;
Hoffman, Hal;
Bird, Lynne M.;
Gebauer, Corinna;
Suchowerskyj, Philipp;
Sack, Ulrich;
Kohlhase, Jürgen;
Schuster, Volker

Publication type:

Article

The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 145, doi. 10.1002/ajmg.a.33586

By:

Gurrieri, F.;
Pomponi, M.G.;
Pietrobono, R.;
Lucci-Cordisco, E.;
Silvestri, E.;
Storniello, G.;
Neri, G.

Publication type:

Article

Should 22q11 deletion be added to newborn screening panels?

Published in:

2011

By:

Levenson, Deborah

Publication type:

Other

Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 197, doi. 10.1002/ajmg.a.33765

By:

Martínez-Frías, M.L.;
Egüés, X.;
Puras, A.;
Hualde, J.;
de Frutos, C.A.;
Bermejo, E.;
Nieto, M.A.;
Martínez, S.

Publication type:

Article

Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 233, doi. 10.1002/ajmg.a.33776

By:

Rieubland, Claudine;
Holmes, Anthony D.;
Caramins, Melody;
Roscioli, Tony;
Amor, David J.

Publication type:

Article

The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 134, doi. 10.1002/ajmg.a.33747

By:

Yıldırım, Yeşerin;
Tolun, Aslıhan;
Tüysüz, Beyhan

Publication type:

Article

Genotype-phenotype analysis of the branchio-oculo-facial syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 22, doi. 10.1002/ajmg.a.33783

By:

Milunsky, Jeff M.;
Maher, Tom M.;
Zhao, Geping;
Wang, Zhenyuan;
Mulliken, John B.;
Chitayat, David;
Clemens, Michele;
Stalker, Heather J.;
Bauer, Mislen;
Burch, Michele;
Chénier, Sébastien;
Cunningham, Michael L.;
Drack, Arlene V.;
Janssens, Sandra;
Karlea, Audrey;
Klatt, Regan;
Kini, Usha;
Klein, Ophir;
Lachmeijer, Augusta M.;
Megarbane, Andre

Publication type:

Article