Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 2

Results: 32

Experimental therapy for neurofibromatosis I shows promise.

Published in:: 2013
Publication type:: Other

Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 386, doi. 10.1002/ajmg.a.35720

By:

Cesaretti, Claudia;
Melloni, Giulia;
Quagliarini, Donatella;
Fogliani, Roberto;
Zaina, Barbara;
Bedeschi, Maria Francesca;
Lalatta, Faustina;
Trespidi, Laura;
Natacci, Federica

Publication type:

Article

NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 377, doi. 10.1002/ajmg.a.35650

By:

Al‐Kateb, Hussam;
Shimony, Joshua S;
Vineyard, Marisa;
Manwaring, Linda;
Kulkarni, Shashikant;
Shinawi, Marwan

Publication type:

Article

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 295, doi. 10.1002/ajmg.a.35735

By:

Czeschik, Johanna Christina;
Voigt, Claudia;
Goecke, Timm O.;
Lüdecke, Hermann‐Josef;
Wagner, Nicholas;
Kuechler, Alma;
Wieczorek, Dagmar

Publication type:

Article

Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 244, doi. 10.1002/ajmg.a.35632

By:

Florisson, Joyce M.G.;
Mathijssen, Irene M.J.;
Dumee, Belinda;
Hoogeboom, Jeannette A.M.;
Poddighe, Pino J.;
Oostra, Ben A.;
Frijns, Jean Pierre;
Koster, Linda;
de Klein, Annelies;
Eussen, Bert;
de Vries, Bert B.A.;
Swagemakers, Sigrid;
van der Spek, Peter J.;
Verkerk, Annemieke J.M.H.

Publication type:

Article

Corrigendum to: 'Myopathy in a 20-Year-Old Female Patient With D4ST-1 Deficient Ehlers-Danlos Syndrome Due to a Homozygous CHST14 Mutation, Am J Med Genet A. 2012 Apr; 158A(4):850-855'.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 403, doi. 10.1002/ajmg.a.35746

By:

Voermans, N.C.

Publication type:

Article

Might diet play a role in autism?

Published in:: 2013
Publication type:: Other

Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 273, doi. 10.1002/ajmg.a.35717

By:

Cordelli, Duccio Maria;
Garavelli, Livia;
Savasta, Salvatore;
Guerra, Azzurra;
Pellicciari, Alessandro;
Giordano, Lucio;
Bonetti, Silvia;
Cecconi, Ilaria;
Wischmeijer, Anita;
Seri, Marco;
Rosato, Simonetta;
Gelmini, Chiara;
Della Giustina, Elvio;
Ferrari, Anna Rita;
Zanotta, Nicoletta;
Epifanio, Roberta;
Grioni, Daniele;
Malbora, Baris;
Mammi, Isabella;
Mari, Francesca

Publication type:

Article

A new NF1 variant in a patient with atypical manifestations.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 389, doi. 10.1002/ajmg.a.35728

By:

Onitilo, Adedayo A.;
Engel, Jessica M.

Publication type:

Article

Table of Contents, Volume 161A, Number 2, February 2013.

Published in:: 2013
Publication type:: Other

Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 352, doi. 10.1002/ajmg.a.35730

By:

Bierhals, Tatjana;
Maddukuri, Satish Babu;
Kutsche, Kerstin;
Girisha, Katta Mohan

Publication type:

Article

Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 254, doi. 10.1002/ajmg.a.35672

By:

Abdelmalik, Nadia;
van Haelst, Mieke;
Mancini, Grazia;
Schrander‐Stumpel, Connie;
Marcus‐Soekarman, Dominique;
Hennekam, Raoul;
Cobben, Jan Maarten

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 161A, Number 2, February 2013.

Published in:: 2013
Publication type:: Other

Maternal attitudes to newborn screening for fragile X syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 301, doi. 10.1002/ajmg.a.35752

By:

Christie, Louise;
Wotton, Tiffany;
Bennetts, Bruce;
Wiley, Veronica;
Wilcken, Bridget;
Rogers, Carolyn;
Boyle, Jackie;
Turner, Catherine;
Hansen, Jessica;
Hunter, Matthew;
Goel, Himanshu;
Field, Michael

Publication type:

Article

Pure de novo partial trisomy 6p in a girl with craniosynostosis.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 343, doi. 10.1002/ajmg.a.35727

By:

Varvagiannis, Konstantinos;
Stefanidou, Amalia;
Gyftodimou, Yolanda;
Lord, Helen;
Williams, Louise;
Sarri, Catherine;
Pandelia, Efi;
Bazopoulou‐Kyrkanidou, Euterpe;
Noakes, Charlotte;
Lester, Tracy;
Wilkie, Andrew O.M.;
Petersen, Michael B.

Publication type:

Article

Timing of diagnosis of 47,XXY and 48,XXYY: A survey of parent experiences.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 268, doi. 10.1002/ajmg.a.35709

By:

Visootsak, Jeannie;
Ayari, Natalie;
Howell, Susan;
Lazarus, Joash;
Tartaglia, Nicole

Publication type:

Article

Response to the letter 'How to describe the clinical spectrum in Pompe disease?'.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 401, doi. 10.1002/ajmg.a.35668

By:

Beckemeyer, Alexandra A.;
Mendelsohn, Nancy J.;
Kishnani, Priya S.

Publication type:

Article

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 338, doi. 10.1002/ajmg.a.35712

By:

Vogt, Julie;
Agrawal, Shakti;
Ibrahim, Zala;
Southwood, Taunton R.;
Philip, Sunny;
MacPherson, Lesley;
Bhole, Malini V.;
Crow, Yanick J.;
Oley, Christine

Publication type:

Article

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 371, doi. 10.1002/ajmg.a.35733

By:

Murray, Brittney;
Wagle, Rohan;
Amat‐Alarcon, Nuria;
Wilkens, Alisha;
Stephens, Paul;
Zackai, Elaine H.;
Goldmuntz, Elizabeth;
Calkins, Hugh;
Deardorff, Matthew A.;
Judge, Daniel P.

Publication type:

Article

Developmental outcome in Pierre Robin sequence: A longitudinal and prospective study of a consecutive series of severe phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 312, doi. 10.1002/ajmg.a.35773

By:

Thouvenin, Béatrice;
Djadi‐Prat, Juliette;
Chalouhi, Christel;
Pierrot, Sébastien;
Lyonnet, Stanislas;
Couly, Gérard;
Abadie, Véronique

Publication type:

Article

A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.

Published in:

2013

By:

Barboza‐Cerda, María C.;
Campos‐Acevedo, Luis D.;
Rangel, Roberto;
Martínez‐de‐Villarreal, Laura E.;
Déctor, Miguel A.

Publication type:

Other

Germline mutations in FGF receptors and medulloblastomas.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 382, doi. 10.1002/ajmg.a.35719

By:

Bourdeaut, Franck;
Miquel, Catherine;
Di Rocco, Federico;
Grison, Camille;
Richer, Wilfrid;
Brugieres, Laurence;
Pierron, Gaelle;
James, Syril;
Baujat, Genevieve;
Delattre, Olivier;
Collet, Corinne

Publication type:

Article

Height correlations between parents and offspring in achondroplasia population.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 396, doi. 10.1002/ajmg.a.35721

By:

del Pino, Mariana;
Fano, Virginia

Publication type:

Article

Singleton-Merten syndrome: An autosomal dominant disorder with variable expression.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 360, doi. 10.1002/ajmg.a.35732

By:

Feigenbaum, Annette;
Müller, Christine;
Yale, Christopher;
Kleinheinz, Johannes;
Jezewski, Peter;
Kehl, Hans Gerd;
MacDougall, Mary;
Rutsch, Frank;
Hennekam, Raoul C.M.

Publication type:

Article

Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 320, doi. 10.1002/ajmg.a.35817

By:

Rush, Eric T.;
Adam, Margaret P.;
Clark, Robin D.;
Curry, Cynthia;
Hartmann, Julianne E.;
Dobyns, William B.;
Olney, Ann Haskins

Publication type:

Article

Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 331, doi. 10.1002/ajmg.a.35708

By:

Putoux, Audrey;
Labalme, Audrey;
André, Jean‐Marie;
Till, Marianne;
Schluth‐Bolard, Caroline;
Berard, Jérôme;
Bertrand, Yves;
Edery, Patrick;
Putet, Guy;
Sanlaville, Damien

Publication type:

Article

In this issue.

Published in:: 2013
Publication type:: Other

Complex II deficiency-A case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 285, doi. 10.1002/ajmg.a.35714

By:

Jain‐Ghai, Shailly;
Cameron, Jessie M.;
Al Maawali, Almundher;
Blaser, Susan;
MacKay, Nevena;
Robinson, Brian;
Raiman, Julian

Publication type:

Article

How to describe the clinical spectrum in Pompe disease?

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 399, doi. 10.1002/ajmg.a.35662

By:

Güngör, Deniz;
Reuser, Arnold J.J.

Publication type:

Article

Characteristics and associated anomalies in radial ray deficiencies in Finland-A population-based study.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 261, doi. 10.1002/ajmg.a.35707

By:

Pakkasjärvi, Niklas;
Koskimies, Eeva;
Ritvanen, Annukka;
Nietosvaara, Yrjänä;
Mäkitie, Outi

Publication type:

Article

Exercise capacity impairment in individuals with neurofibromatosis type 1.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 393, doi. 10.1002/ajmg.a.35729

By:

de Souza, Juliana Ferreira;
Araújo, Christiano Gonçalves;
de Rezende, Nilton Alves;
Rodrigues, Luiz Oswaldo Carneiro

Publication type:

Article

A boy with partial trisomy of chromosome 3q24-q28 from paternal balanced insertion and multiple congenital anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 327, doi. 10.1002/ajmg.a.35637

By:

Zhu, Haiyan;
Hu, Yali;
Zhu, Ruifang;
Yang, Ying;
Zhu, Xiangyu;
Wang, Wanjun

Publication type:

Article