Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 10

Results: 49

Three patients resembling Teebi-Shaltout syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2570, doi. 10.1002/ajmg.a.36082

By:

Aldemir, Ozgur;
Ozen, Samim;
Erdem, Sevcan;
Kiraz, Aslihan;
Akarsu, Nurten;
Alanay, Yasemin

Publication type:

Article

Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2512, doi. 10.1002/ajmg.a.36127

By:

Wu, Jianhua;
Springett, Anna;
Morris, Joan K.

Publication type:

Article

Collagenopathy with a phenotype resembling silver-russell syndrome phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2681, doi. 10.1002/ajmg.a.36093

By:

Cianci, Paola;
Paterlini, Giuseppe;
Tagliabue, Paolo;
Verderio, Maria;
Vergani, Patrizia;
Bianchi, Maria Luisa;
Giussani, Carlo;
Kullmann, Gaia;
Mazzoleni, Fabio;
Bozzetti, Alberto;
Selicorni, Angelo

Publication type:

Article

Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2559, doi. 10.1002/ajmg.a.36035

By:

Pittalis, Maria Carla;
Mattarozzi, Angela;
Menozzi, Cristina;
Malacarne, Michela;
Baccolini, Ilaria;
Farina, Antonio;
Pompilii, Eva;
Magini, Pamela;
Percesepe, Antonio

Publication type:

Article

De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2594, doi. 10.1002/ajmg.a.36097

By:

Auger, Julie;
Bonnet, Céline;
Valduga, Mylène;
Philippe, Christophe;
Bertolo‐Houriez, Emmanuelle;
Beri‐Dexheimer, Mylène;
Schweitzer, Cyril;
Leheup, Bruno;
Jonveaux, Philippe

Publication type:

Article

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2564, doi. 10.1002/ajmg.a.36079

By:

Dimassi, Sarra;
Andrieux, Joris;
Labalme, Audrey;
Lesca, Gaétan;
Cordier, Marie‐Pierre;
Boute, Odile;
Neut, Dorothée;
Edery, Patrick;
Sanlaville, Damien;
Schluth‐Bolard, Caroline

Publication type:

Article

Small study yields big results for whole genome sequencing in autism diagnosis: Geneticists optimistic that findings could aid with early identification of disorder.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. vii, doi. 10.1002/ajmg.a.36221

By:

Levenson, Deborah

Publication type:

Article

Growth hormone, gender and face shape in prader-willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2453, doi. 10.1002/ajmg.a.36100

By:

de Souza, Mauren Abreu;
McAllister, Catherine;
Suttie, Michael;
Perrotta, Concetta;
Mattina, Teresa;
Faravelli, Francesca;
Forzano, Francesca;
Holland, Anthony;
Hammond, Peter

Publication type:

Article

Bone marrow transplantation in Schimke immuno-osseous dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2609, doi. 10.1002/ajmg.a.36111

By:

Baradaran‐Heravi, Alireza;
Lange, Jonas;
Asakura, Yumi;
Cochat, Pierre;
Massella, Laura;
Boerkoel, Cornelius F.

Publication type:

Article

Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: A familial case with 17q21.33-q22 ( COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2504, doi. 10.1002/ajmg.a.36122

By:

Harbuz, Radu;
Bilan, Frédéric;
Couet, Dominique;
Charraud, Valérie;
Kitzis, Alain;
Gilbert‐Dussardier, Brigitte

Publication type:

Article

Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2535, doi. 10.1002/ajmg.a.36133

By:

Leslie, Elizabeth J.;
Mancuso, Jennifer L.;
Schutte, Brian C.;
Cooper, Margaret E.;
Durda, Kate M.;
L'Heureux, Jamie;
Zucchero, Theresa M.;
Marazita, Mary L.;
Murray, Jeffrey C.

Publication type:

Article

Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2614, doi. 10.1002/ajmg.a.36115

By:

Savoldi, Gianfranco;
Izzi, Claudia;
Signorelli, Marino;
Bondioni, Maria Pia;
Romani, Chiara;
Lanzi, Gaetana;
Moratto, Daniele;
Verdoni, Lucio;
Pinotti, Moira;
Prefumo, Federico;
Superti‐Furga, Andrea;
Pilotta, Alba

Publication type:

Article

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2663, doi. 10.1002/ajmg.a.36081

By:

Dupont, Céline;
Baumann, Clarisse;
Le Du, Nathalie;
Schaefer, Elise;
Guimiot, Fabien;
Boutaud, Lucile;
Capri, Yline;
Spaggiari, Emmanuel;
Aboura, Azzedine;
Benzacken, Brigitte;
Tabet, Anne‐Claude

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 161A, Number 10, October 2013.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. C1, doi. 10.1002/ajmg.a.36269
Publication type:: Article

Boston type craniosynostosis: Report of a second mutation in MSX2.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2626, doi. 10.1002/ajmg.a.36126

By:

Florisson, Joyce M.G.;
Verkerk, Annemieke J.M.H.;
Huigh, Daphne;
Hoogeboom, A. Jeannette M.;
Swagemakers, Sigrid;
Kremer, Andreas;
Heijsman, Daphne;
Lequin, Maarten H.;
Mathijssen, Irene M.J.;
van der Spek, Peter J.

Publication type:

Article

5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2604, doi. 10.1002/ajmg.a.36108

By:

Brown, Natasha;
Burgess, Trent;
Forbes, Robin;
McGillivray, George;
Kornberg, Andrew;
Mandelstam, Simone;
Stark, Zornitza

Publication type:

Article

De novo 15q13.3 microdeletion with cryptogenic west syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2582, doi. 10.1002/ajmg.a.36085

By:

Lacaze, Elodie;
Gruchy, Nicolas;
Penniello‐Valette, Marie‐José;
Plessis, Ghislaine;
Richard, Nicolas;
Decamp, Mathieu;
Mittre, Hervé;
Leporrier, Nathalie;
Andrieux, Joris;
Kottler, Marie‐Laure;
Gerard, Marion

Publication type:

Article

Brain magnetic resonance imaging findings in smith-lemli-opitz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2407, doi. 10.1002/ajmg.a.36096

By:

Lee, Ryan W.Y.;
Conley, Sandra K.;
Gropman, Andrea;
Porter, Forbes D.;
Baker, Eva H.

Publication type:

Article

Timing of diagnosis of patients with pompe disease: Data from the pompe registry.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2431, doi. 10.1002/ajmg.a.36110

By:

Kishnani, Priya S.;
Amartino, Hernán M.;
Lindberg, Christopher;
Miller, Timothy M.;
Wilson, Amanda;
Keutzer, Joan

Publication type:

Article

An unexpected aortic valve in trisomy 21.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2670, doi. 10.1002/ajmg.a.36121

By:

Karadeniz, Cem;
Ozdemir, Rahmi;
Yozgat, Yılmaz;
Mese, Timur

Publication type:

Article

A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2645, doi. 10.1002/ajmg.a.36132

By:

Isidor, Bertrand;
Geffroy, Loïc;
de Courtivron, Benoît;
Le Caignec, Cédric;
Thiel, Christian T.;
Mortier, Geert;
Cormier‐Daire, Valérie;
David, Albert;
Toutain, Annick

Publication type:

Article

Prevalence of beckwith-wiedemann syndrome in North West of Italy.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2481, doi. 10.1002/ajmg.a.36080

By:

Mussa, Alessandro;
Russo, Silvia;
De Crescenzo, Agostina;
Chiesa, Nicoletta;
Molinatto, Cristina;
Selicorni, Angelo;
Richiardi, Lorenzo;
Larizza, Lidia;
Silengo, Margherita Cirillo;
Riccio, Andrea;
Ferrero, Giovanni Battista

Publication type:

Article

Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2672, doi. 10.1002/ajmg.a.36125

By:

Kakar, Naseebullah;
Ahmad, Jamil;
Kubisch, Christian;
Borck, Guntram

Publication type:

Article

Table of Contents, Volume 161A, Number 10, October 2013.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. fm i, doi. 10.1002/ajmg.a.36270
Publication type:: Article

Risk and protective factors in the origin of conotruncal defects of heart-a population-based case-control study.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2444, doi. 10.1002/ajmg.a.36118

By:

Csáky‐Szunyogh, Melinda;
Vereczkey, Attila;
Kósa, Zsolt;
Gerencsér, Balázs;
Czeizel, Andrew E.

Publication type:

Article

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2487, doi. 10.1002/ajmg.a.36084

By:

Harrison, Steven M.;
Campbell, Ian M.;
Keays, Melise;
Granberg, Candace F.;
Villanueva, Carlos;
Tannin, Grace;
Zinn, Andrew R.;
Castrillon, Diego H.;
Shaw, Chad A.;
Stankiewicz, Pawel;
Baker, Linda A.

Publication type:

Article

A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: Further characterization and review.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2634, doi. 10.1002/ajmg.a.36129

By:

Maria Christina Schwaibold, Eva;
Zoll, Barbara;
Burfeind, Peter;
Hobbiebrunken, Elke;
Wilken, Bernd;
Funke, Rudolf;
Shoukier, Moneef

Publication type:

Article

Victor McKusick and the history of medical genetics.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2678, doi. 10.1002/ajmg.a.36095

By:

Opitz, John M.

Publication type:

Article

A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2600, doi. 10.1002/ajmg.a.36107

By:

Sekiguchi, Kazuhito;
Maeda, Tomoki;
Suenobu, So‐ichi;
Kunisaki, Nobutaka;
Shimizu, Miki;
Kiyota, Kyoko;
Handa, Yo‐suke;
Akiyoshi, Kensuke;
Korematsu, Seigo;
Aoki, Yoko;
Matsubara, Yoichi;
Izumi, Tatsuro

Publication type:

Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. x, doi. 10.1002/ajmg.a.36223
Publication type:: Article

Germline mosaicism does not explain the maternal age effect on trisomy.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2495, doi. 10.1002/ajmg.a.36120

By:

Rowsey, Ross;
Kashevarova, Anna;
Murdoch, Brenda;
Dickenson, Carrie;
Woodruff, Tracey;
Cheng, Edith;
Hunt, Patricia;
Hassold, Terry

Publication type:

Article

The 'old theme' of variability versus transitory phenotypes in thanatophoric dysplasia type 1: Two 19-week-old fetuses with ('San Diego' variant) and without ragged metaphyses due to the same FGFR3 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2675, doi. 10.1002/ajmg.a.36131

By:

Castori, Marco;
Morlino, Silvia;
Radio, Francesca Clementina;
De Bernardo, Carmelilia;
Grammatico, Paola

Publication type:

Article

'Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome' Am J Med Genet. 161:518-526, 2013.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2685, doi. 10.1002/ajmg.a.36113

By:

Narumi, Yoko;
Min, Byung‐Joo;
Shimizu, Kenji;
Kazukawa, Itsuro;
Sameshima, Kiyoko;
Nakamura, Koichi;
Kosho, Tomoki;
Rhee, Yumie;
Chung, Yoon‐Sok;
Kim, Ok‐Hwa;
Fukushima, Yoshimitsu;
Park, Woong‐Yang;
Nishimura, Gen

Publication type:

Article

Intellectual disability, unusual facial morphology and hand anomalies in sibs.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2401, doi. 10.1002/ajmg.a.36124

By:

Sousa, Sérgio B.;
Venâncio, Margarida;
Chanudet, Estelle;
Palmer, Rodger;
Ramos, Lina;
Beales, Philip L.;
Moore, Gudrun E.;
Saraiva, Jorge M.;
Hennekam, Raoul C.

Publication type:

Article

Autism and epistemology IV: Does autism need a theory of mind?

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2464, doi. 10.1002/ajmg.a.36135

By:

Fisch, Gene S.

Publication type:

Article

The phenotype range of achondrogenesis 1A.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2554, doi. 10.1002/ajmg.a.36106

By:

Grigelioniene, Giedre;
Geiberger, Stefan;
Papadogiannakis, Nikos;
Mäkitie, Outi;
Nishimura, Gen;
Nordgren, Ann;
Conner, Peter

Publication type:

Article

Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two De novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA 2, and FBXO 8 genes.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2656, doi. 10.1002/ajmg.a.36146

By:

Calcia, Alessandro;
Gai, Giorgia;
Di Gregorio, Eleonora;
Talarico, Flavia;
Naretto, Valeria G.;
Migone, Nicola;
Pepe, Ernesto;
Grosso, Enrico;
Brusco, Alfredo

Publication type:

Article

Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2666, doi. 10.1002/ajmg.a.36117

By:

McPherson, Elizabeth;
Cold, Christopher

Publication type:

Article

Co-occurrence of 22q11 deletion syndrome and hdr syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2576, doi. 10.1002/ajmg.a.36083

By:

Fukai, Ryoko;
Ochi, Nobuhiko;
Murakami, Akira;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Redefining the progeroid form of ehlers-danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2519, doi. 10.1002/ajmg.a.36128

By:

Guo, Michael H.;
Stoler, Joan;
Lui, Julian;
Nilsson, Ola;
Bianchi, Diana W.;
Hirschhorn, Joel N.;
Dauber, Andrew

Publication type:

Article

Two somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2588, doi. 10.1002/ajmg.a.36094

By:

Tanteles, George A;
Dixit, Abhijit;
Dhar, Sunil;
Suri, Mohnish

Publication type:

Article

Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2420, doi. 10.1002/ajmg.a.36098

By:

Gripp, Karen W.;
Zand, Dina J.;
Demmer, Laurie;
Anderson, Carol E.;
Dobyns, William B.;
Zackai, Elaine H.;
Denenberg, Elizabeth;
Jenny, Kim;
Stabley, Deborah L.;
Sol‐Church, Katia

Publication type:

Article

Opitz award paper spotlights brain overgrowth syndromes.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. vii, doi. 10.1002/ajmg.a.36222
Publication type:: Article

Achondroplasia with multiple-suture craniosynostosis: A report of a new case of this rare association.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2641, doi. 10.1002/ajmg.a.36130

By:

Bessenyei, Beáta;
Nagy, Andrea;
Balogh, Erzsébet;
Novák, László;
Bognár, László;
Knegt, Alida C.;
Oláh, Éva

Publication type:

Article

Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2545, doi. 10.1002/ajmg.a.36141

By:

Böhmer, Anne C.;
Mangold, Elisabeth;
Tessmann, Peter;
Mossey, Peter A.;
Steegers‐Theunissen, Regine P.;
Lindemans, Jan;
Bouwman‐Both, Marieke;
Rubini, Michele;
Franceschelli, Paola;
Aiello, Vincenzo;
Peterlin, Borut;
Molloy, Anne M.;
Nöthen, Markus M.;
Knapp, Michael;
Ludwig, Kerstin U.

Publication type:

Article

Maternal FMR1 premutation allele expansion and contraction in fraternal twins.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2620, doi. 10.1002/ajmg.a.36123

By:

Alfaro, Maria P.;
Cohen, Melinda;
Vnencak‐Jones, Cindy L.

Publication type:

Article

A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2528, doi. 10.1002/ajmg.a.36134

By:

Matsushita, Masaki;
Kitoh, Hiroshi;
Kaneko, Hiroshi;
Mishima, Kenichi;
Kadono, Izumi;
Ishiguro, Naoki;
Nishimura, Gen

Publication type:

Article

Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-lamy syndrome).

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2550, doi. 10.1002/ajmg.a.36105

By:

Brands, Marion;
Roelants, Jorine;
de Krijger, Ronald;
Bogers, Ad;
Reuser, Arnold;
van der Ploeg, Ans;
Helbing, Wim

Publication type:

Article

Silver-Russell syndrome due to paternal H19/ IGF2 hypomethylation in a twin girl born after in vitro fertilization.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2652, doi. 10.1002/ajmg.a.36145

By:

Cocchi, Guido;
Marsico, Concetta;
Cosentino, Anita;
Spadoni, Chiara;
Rocca, Alessandro;
De Crescenzo, Agostina;
Riccio, Andrea

Publication type:

Article