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

Results: 44

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
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
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
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
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
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
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
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
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
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
American Journal of Medical Genetics Part A: Volume 155, Number 1, January 2011.
Published in:
2011
Publication type:
Other
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
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
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 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
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
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
Should 22q11 deletion be added to newborn screening panels?
Published in:
2011
By:
- Levenson, Deborah
Publication type:
Other
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