Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 11

Results: 35

Short falls in treatment, management for pku raise concerns: Lack of medical care, coverage for affected adults bolsters call for long-term management of chronic conditions identified in newborn screening programs.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. viii, doi. 10.1002/ajmg.a.36296
Publication type:: Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. x, doi. 10.1002/ajmg.a.36297
Publication type:: Article

The perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2691, doi. 10.1002/ajmg.a.36316

By:

Neri, Giovanni;
Martini‐Neri, Maria Enrica;
Katz, Ben E.;
Opitz, John M.

Publication type:

Article

Simpson-golabi-behmel syndrome: An X-linked encephalo-tropho-schisis syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2697, doi. 10.1002/ajmg.a.36317

By:

Neri, G.;
Marini, R.;
Cappa, M.;
Borrelli, P.;
Opitz, J.M.

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 161A, Number 11, November 2013.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. C1, doi. 10.1002/ajmg.a.36352
Publication type:: Article

Table of Contents, Volume 161A, Number 11, November 2013.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. fm i, doi. 10.1002/ajmg.a.36353
Publication type:: Article

The hutterite variant of treacher collins syndrome: A 28-year-old story solved.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2855, doi. 10.1002/ajmg.a.36172

By:

Caluseriu, Oana;
Lowry, Brian R.;
McLeod, Ross;
Lamont, Ryan;
Parboosingh, Jillian S.;
Bernier, Francois P.;
Innes, A. Micheil

Publication type:

Article

Malformations among the X-linked intellectual disability syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2741, doi. 10.1002/ajmg.a.36179

By:

Stevenson, Roger E.;
Schwartz, Charles E.;
Rogers, R. Curtis

Publication type:

Article

Perspectives on RAGE signaling and its role in cardiovascular disease.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2750, doi. 10.1002/ajmg.a.36181

By:

Cohen, M. Michael

Publication type:

Article

MED 12 related disorders.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2734, doi. 10.1002/ajmg.a.36183

By:

Graham, John M.;
Schwartz, Charles E.

Publication type:

Article

Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2846, doi. 10.1002/ajmg.a.36209

By:

De Wolf, Veerle;
Brison, Nathalie;
Devriendt, Koenraad;
Peeters, Hilde

Publication type:

Article

Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies?

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2873, doi. 10.1002/ajmg.a.36226

By:

Lalatta, Faustina;
Tint, G Stephen

Publication type:

Article

Annals of morphology. Atavisms: Phylogenetic lazarus?

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2822, doi. 10.1002/ajmg.a.36234

By:

Zanni, Ginevra;
Opitz, John M.

Publication type:

Article

Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2860, doi. 10.1002/ajmg.a.36239

By:

Gurrieri, Fiorella;
Everman, David B.

Publication type:

Article

Fragile X syndrome: From protein function to therapy.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2809, doi. 10.1002/ajmg.a.36241

By:

Bagni, Claudia;
Oostra, Ben A.

Publication type:

Article

Historical perspective on developmental concepts and terminology.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2711, doi. 10.1002/ajmg.a.36244

By:

Opitz, John M.;
Neri, Giovanni

Publication type:

Article

Elements of morphology: General terms for congenital anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2726, doi. 10.1002/ajmg.a.36249

By:

Hennekam, Raoul C.;
Biesecker, Leslie G.;
Allanson, Judith E.;
Hall, Judith G.;
Opitz, John M.;
Temple, I Karen;
Carey, John C.

Publication type:

Article

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2880, doi. 10.1002/ajmg.a.36250

By:

Hofmann, Kristin;
Zweier, Markus;
Sticht, Heinrich;
Zweier, Christiane;
Wittmann, Wolfgang;
Hoyer, Juliane;
Uebe, Steffen;
van Haeringen, Arie;
Thiel, Christian T.;
Ekici, Arif B.;
Reis, André;
Rauch, Anita

Publication type:

Article

Solving the puzzle of spinal muscular atrophy: What are the missing pieces?

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2836, doi. 10.1002/ajmg.a.36251

By:

Tiziano, Francesco Danilo;
Melki, Judith;
Simard, Louise R.

Publication type:

Article

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2909, doi. 10.1002/ajmg.a.36252

By:

Gervasini, Cristina;
Russo, Silvia;
Cereda, Anna;
Parenti, Ilaria;
Masciadri, Maura;
Azzollini, Jacopo;
Melis, Daniela;
Aravena, Teresa;
Doray, Bérénice;
Ferrarini, Alessandra;
Garavelli, Livia;
Selicorni, Angelo;
Larizza, Lidia

Publication type:

Article

The growing complexity of the intestinal polyposis syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2777, doi. 10.1002/ajmg.a.36253

By:

Lucci‐Cordisco, Emanuela;
Risio, Mauro;
Venesio, Tiziana;
Genuardi, Maurizio

Publication type:

Article

GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2756, doi. 10.1002/ajmg.a.36255

By:

Mazzanti, Laura;
Tamburrino, Federica;
Scarano, Emanuela;
Perri, Annamaria;
Vestrucci, Benedetta;
Guidetti, Monica;
Rossi, Cesare;
Tartaglia, Marco

Publication type:

Article

Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: A co-morbidity model with additional copy number variations in a large family.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2890, doi. 10.1002/ajmg.a.36257

By:

Marangi, Giuseppe;
Orteschi, Daniela;
Milano, Valentina;
Mancano, Giorgia;
Zollino, Marcella

Publication type:

Article

Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: The masterpieces of the 'Sansevero Chapel'.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2920, doi. 10.1002/ajmg.a.36258

By:

Della Monica, Matteo;
Galzerano, Domenico;
Di Michele, Sara;
Acquaviva, Fabio;
Gregorio, Giovanni;
Lonardo, Fortunato;
Sguazzo, Francesca;
Scarano, Francesca;
Lama, Diana;
Scarano, Gioacchino

Publication type:

Article

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2894, doi. 10.1002/ajmg.a.36259

By:

Garavelli, Livia;
Piemontese, Maria Rosaria;
Cavazza, Alberto;
Rosato, Simonetta;
Wischmeijer, Anita;
Gelmini, Chiara;
Albertini, Enrico;
Albertini, Giuseppe;
Forzano, Francesca;
Franchi, Fabrizia;
Carella, Massimo;
Zelante, Leopoldo;
Superti‐Furga, Andrea

Publication type:

Article

Editor's forward to special articles: Elements of morphology.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2710, doi. 10.1002/ajmg.a.36260

By:

Carey, John C.

Publication type:

Article

Encomium: Giovanni Neri-Polyhedral and down-to-earth mentor.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2687, doi. 10.1002/ajmg.a.36261

By:

Genuardi, Maurizio;
Gurrieri, Fiorella;
Zollino, Marcella

Publication type:

Article

Giovanni Neri.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2704, doi. 10.1002/ajmg.a.36262

By:

Cohen, M. Michael

Publication type:

Article

My memories of Professor Giovanni Neri: The cardiofaciocutaneous syndrome (CFC).

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2707, doi. 10.1002/ajmg.a.36263

By:

Kavamura, Maria Ines

Publication type:

Article

Epigenetics, fragile X syndrome and transcriptional therapy.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2797, doi. 10.1002/ajmg.a.36264

By:

Tabolacci, Elisabetta;
Chiurazzi, Pietro

Publication type:

Article

Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2762, doi. 10.1002/ajmg.a.36265

By:

Lin, Angela E.;
Traum, Avram Z.;
Sahai, Inderneel;
Keppler‐Noreuil, Kim;
Kukolich, Mary K.;
Adam, Margaret P.;
Westra, Sjirk J.;
Arts, Heleen H.

Publication type:

Article

PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2902, doi. 10.1002/ajmg.a.36266

By:

Piccione, Maria;
Fragapane, Tiziana;
Antona, Vincenzo;
Giachino, Daniela;
Cupido, Francesco;
Corsello, Giovanni

Publication type:

Article

Developmental disease and cancer: Biological and clinical overlaps.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2788, doi. 10.1002/ajmg.a.36267

By:

Bellacosa, Alfonso

Publication type:

Article

My memories of Dr. Giovanni Neri.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2706, doi. 10.1002/ajmg.a.36268

By:

Knudson, Alfred G.

Publication type:

Article

Extra chromosome in trisomy 21 silence d in stem cells: Findings raise potential for new insights into Down syndrome and other chromosomal disorders.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. vii, doi. 10.1002/ajmg.a.36295

By:

Levenson, Deborah

Publication type:

Article