Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 6

Results: 43

Development of the human heart.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1347, doi. 10.1002/ajmg.a.35896

By:

Sylva, Marc;
van den Hoff, Maurice J.B.;
Moorman, Antoon F.M.

Publication type:

Article

An excerpt from 'The boys, or waiting for the electrician's daughter'.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1396, doi. 10.1002/ajmg.a.36510

By:

Terpstra, John

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 164A, Number 6, June 2014.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. C1, doi. 10.1002/ajmg.a.36617
Publication type:: Article

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1559, doi. 10.1002/ajmg.a.36480

By:

Šípek, Antonín;
Grodecká, Lucie;
Baxová, Alice;
Cibulková, Petra;
Dvořáková, Magdaléna;
Mazurová, Stella;
Magner, Martin;
Zeman, Jiří;
Honzík, Tomáš;
Freiberger, Tomáš

Publication type:

Article

Parents' experiences of receiving their child's genetic diagnosis: A qualitative study to inform clinical genetics practice.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1496, doi. 10.1002/ajmg.a.36525

By:

Ashtiani, Setareh;
Makela, Nancy;
Carrion, Prescilla;
Austin, Jehannine

Publication type:

Article

Erratum to perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet Part A 161A: 578-584.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1618, doi. 10.1002/ajmg.a.36518

By:

Funke, Simone;
Gardeitchik, Thatjana;
Kouwenberg, Dorus;
Mohamed, Miski;
Wortmann, Saskia;
Korsch, Eckhard;
Adamovicz, Maciej;
Al‐Gazali, Lihadh;
Wevers, Ron A.;
Horvath, Adrien;
Lefeber, Dirk J.;
Morava, Eva

Publication type:

Article

A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1571, doi. 10.1002/ajmg.a.36484

By:

Dubruc, Estelle;
Putoux, Audrey;
Labalme, Audrey;
Rougeot, Christelle;
Sanlaville, Damien;
Edery, Patrick

Publication type:

Article

Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1431, doi. 10.1002/ajmg.a.36466

By:

Merker, Vanessa L.;
Bredella, Miriam A.;
Cai, Wenli;
Kassarjian, Ara;
Harris, Gordon J.;
Muzikansky, Alona;
Nguyen, Rosa;
Mautner, Victor F.;
Plotkin, Scott R.

Publication type:

Article

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1550, doi. 10.1002/ajmg.a.36477

By:

Kuroda, Yukiko;
Ohashi, Ikuko;
Tominaga, Makiko;
Saito, Toshiyuki;
Nagai, Jun‐ichi;
Ida, Kazumi;
Naruto, Takuya;
Masuno, Mitsuo;
Kurosawa, Kenji

Publication type:

Article

Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo TBX5 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1419, doi. 10.1002/ajmg.a.36459

By:

Baban, Anwar;
Pitto, Letizia;
Pulignani, Silvia;
Cresci, Monica;
Mariani, Laura;
Gambacciani, Carolina;
Digilio, Maria Cristina;
Pongiglione, Giacomo;
Albanese, Sonia

Publication type:

Article

A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1587, doi. 10.1002/ajmg.a.36490

By:

Brown, Lindsay A.;
Rupps, Rosemarie;
Peñaherrera, Maria S.;
Robinson, Wendy P.;
Patel, Millan S.;
Eydoux, Patrice;
Boerkoel, Cornelius F.

Publication type:

Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. x, doi. 10.1002/ajmg.a.36609
Publication type:: Article

The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1503, doi. 10.1002/ajmg.a.36517

By:

Mirzaa, Ghayda M.;
Millen, Kathleen J.;
Barkovich, A. James;
Dobyns, William B.;
Paciorkowski, Alex R.

Publication type:

Article

Expanding the phenotypic profile of boys with 47, XXY: The impact of familial learning disabilities.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1464, doi. 10.1002/ajmg.a.36483

By:

Samango‐Sprouse, Carole A.;
Stapleton, Emily J.;
Mitchell, Francie L.;
Sadeghin, Teresa;
Donahue, Thomas P.;
Gropman, Andrea L.

Publication type:

Article

Blepharo-cheilo-dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1525, doi. 10.1002/ajmg.a.36465

By:

Ababneh, Farouq K.;
Al‐Swaid, Abdulrahman;
Elhag, Ahmed;
Youssef, Talaat;
Alsaif, Saif

Publication type:

Article

Hyperphosphatemic familial tumoral calcinosis: Response to acetazolamide and postulated mechanisms.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1545, doi. 10.1002/ajmg.a.36476

By:

Finer, Gal;
Price, Heather E.;
Shore, Richard M.;
White, Kenneth E.;
Langman, Craig B.

Publication type:

Article

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1580, doi. 10.1002/ajmg.a.36487

By:

von Oettingen, Julia E.;
Tan, Wen‐Hann;
Dauber, Andrew

Publication type:

Article

Outfoxed by RBFOX1-A caution about ascertainment bias.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1411, doi. 10.1002/ajmg.a.36458

By:

Kamien, Benjamin;
Lionel, Anath C.;
Bain, Nicole;
Scherer, Stephen W.;
Hunter, Matthew

Publication type:

Article

Lymphedema in tuberous sclerosis complex.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1438, doi. 10.1002/ajmg.a.36469

By:

Geffrey, Alexandra L.;
Shinnick, Julianna E.;
Staley, Brigid A.;
Boronat, Susana;
Thiele, Elizabeth A.

Publication type:

Article

Cell-free fetal DNA tests for trisomy show promise in women at lower risk of affected pregnancies.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. viii, doi. 10.1002/ajmg.a.36608
Publication type:: Article

A day in the life.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1394, doi. 10.1002/ajmg.a.36534

By:

Adams, Rachel

Publication type:

Article

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1470, doi. 10.1002/ajmg.a.36545

By:

Van Dijk, F.S.;
Sillence, D.O.

Publication type:

Article

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1537, doi. 10.1002/ajmg.a.36471

By:

Masurel‐Paulet, Alice;
Drumare, Isabelle;
Holder, Muriel;
Cuisset, Jean‐Marie;
Vallée, Louis;
Defoort, Sabine;
Bourgois, Béatrice;
Pernes, Philippe;
Cuvellier, Jean‐Christophe;
Huet, Frédéric;
Chehadeh, Salima El;
Thevenon, Julien;
Callier, Patrick;
Thauvin, Christel;
Faivre, Laurence;
Andrieux, Joris

Publication type:

Article

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1565, doi. 10.1002/ajmg.a.36482

By:

Faqeih, Eissa A.;
Al‐Owain, Mohammed;
Colak, Dilek;
Kenana, Rosan;
Al‐Yafee, Yusra;
Al‐Dosary, Mazhor;
Al‐Saman, Abdulaziz;
Albalawi, Fadwa;
Al‐Sarar, Dalia;
Domiaty, Dalia;
Daghestani, Maha;
Kaya, Namik

Publication type:

Article

Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1595, doi. 10.1002/ajmg.a.36464

By:

Fokstuen, Siv;
Kotzot, Dieter

Publication type:

Article

Craniofacial and dental development in Costello syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1425, doi. 10.1002/ajmg.a.36475

By:

Goodwin, Alice F.;
Oberoi, Snehlata;
Landan, Maya;
Charles, Cyril;
Massie, Jessica C.;
Fairley, Cecilia;
Rauen, Katherine A.;
Klein, Ophir D.

Publication type:

Article

Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1512, doi. 10.1002/ajmg.a.36446

By:

Jelena, Brezo;
Christina, Lam;
Eric, Vilain;
Fabiola, Quintero‐Rivera

Publication type:

Article

Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1576, doi. 10.1002/ajmg.a.36486

By:

Isrie, Mala;
Wuyts, Wim;
Van Esch, Hilde;
Devriendt, Koenraad

Publication type:

Article

Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1384, doi. 10.1002/ajmg.a.36417

By:

Kline, Antonie D.;
Calof, Anne L.;
Schaaf, Cheri A.;
Krantz, Ian D.;
Jyonouchi, Soma;
Yokomori, Kyoko;
Gauze, Maria;
Carrico, Cheri S.;
Woodman, Julie;
Gerton, Jennifer L.;
Vega, Hugo;
Levin, Alex V.;
Shirahige, Katsuhiko;
Champion, Michele;
Goodban, Marjorie T.;
O'Connor, Julia T.;
Pipan, Mary;
Horsfield, Julia;
Deardorff, Matthew A.;
Ishman, Stacey L.

Publication type:

Article

Cervical spine malformation in cornelia de lange syndrome: A report of three patients.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1520, doi. 10.1002/ajmg.a.36457

By:

Bettini, Laura Rachele;
Locatelli, Laura;
Mariani, Milena;
Cianci, Paola;
Giussani, Carlo;
Canonico, Francesco;
Cereda, Anna;
Russo, Silvia;
Gervasini, Cristina;
Biondi, Andrea;
Selicorni, Angelo

Publication type:

Article

Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1611, doi. 10.1002/ajmg.a.36479

By:

Reutter, Heiko;
Gurung, Nirmala;
Ludwig, Michael

Publication type:

Article

Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1490, doi. 10.1002/ajmg.a.36500

By:

Peyvandi, Shabnam;
Ingall, Eitan;
Woyciechowski, Stacy;
Garbarini, Jennifer;
Mitchell, Laura E.;
Goldmuntz, Elizabeth

Publication type:

Article

Gene silencing in fragile X syndrome explained.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. vii, doi. 10.1002/ajmg.a.36607
Publication type:: Article

Autism traits in children and adolescents with Cornelia de Lange syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1400, doi. 10.1002/ajmg.a.36573

By:

Srivastava, Siddharth;
Landy‐Schmitt, Colleen;
Clark, Bennett;
Kline, Antonie D.;
Specht, Matt;
Grados, Marco A.

Publication type:

Article

Table of Contents, Volume 164A, Number 6, June 2014.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. fm i, doi. 10.1002/ajmg.a.36618
Publication type:: Article

Chondrodysplasia punctata associated with maternal Sjögren syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1606, doi. 10.1002/ajmg.a.36470

By:

Huarte, Natalia Marin;
Santos‐Simarro, Fernando;
Abascal, Ignacio Pastor;
García‐Miñaur, Sixto;
Omeñaca, Felix

Publication type:

Article

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1482, doi. 10.1002/ajmg.a.36481

By:

Stephen, Joshi;
Shukla, Anju;
Dalal, Ashwin;
Girisha, Katta Mohan;
Shah, Hitesh;
Gupta, Neerja;
Kabra, Madhulika;
Dabadghao, Preeti;
Phadke, Shubha R.

Publication type:

Article

L1CAM whole gene deletion in a child with L1 syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1555, doi. 10.1002/ajmg.a.36474

By:

Chidsey, Brandalyn A.;
Baldwin, Erin E.;
Toydemir, Reha;
Ahles, Lauren;
Hanson, Heather;
Stevenson, David A.

Publication type:

Article

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1614, doi. 10.1002/ajmg.a.36485

By:

Elsaid, Mahmoud F.;
Kamel, Hussein;
Chalhoub, Nader;
Aziz, Nahla Abdel;
Ibrahim, Khalid;
Ben‐Omran, Tawfeg;
George, Binu;
Al‐Dous, Eman;
Mohamoud, Yasmin;
Malek, Joel A.;
Ross, M. Elizabeth;
Aleem, Alice Abdel

Publication type:

Article

Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1530, doi. 10.1002/ajmg.a.36467

By:

Le Tanno, Pauline;
Poreau, Brice;
Devillard, Francoise;
Vieville, Gaëlle;
Amblard, Florence;
Jouk, Pierre‐Simon;
Satre, Véronique;
Coutton, Charles

Publication type:

Article

Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1454, doi. 10.1002/ajmg.a.36478

By:

Jenkins, Mary M.;
Reefhuis, Jennita;
Gallagher, Margaret L.;
Mulle, Jennifer G.;
Hoffmann, Thomas J.;
Koontz, Deborah A.;
Sturchio, Cynthia;
Rasmussen, Sonja A.;
Witte, John S.;
Richter, Patricia;
Honein, Margaret A.

Publication type:

Article

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1443, doi. 10.1002/ajmg.a.36489

By:

Kantaputra, Piranit Nik;
Kayserili, Hulya;
Guven, Yeliz;
Kantaputra, Warissara;
Balci, Mehmet C.;
Tanpaiboon, Pranoot;
Tananuvat, Napaporn;
Uttarilli, Anusha;
Dalal, Ashwin

Publication type:

Article

Development of the human aortic arch system captured in an interactive three-dimensional reference model.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1372, doi. 10.1002/ajmg.a.35881

By:

Rana, M. Sameer;
Sizarov, Aleksander;
Christoffels, Vincent M.;
Moorman, Antoon F.M.

Publication type:

Article