Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 9

Results: 40

A de novo Mutation in KMT2A ( MLL) in monozygotic twins with Wiedemann-Steiner Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2182, doi. 10.1002/ajmg.a.37130

By:

Dunkerton, Sophie;
Field, Matthew;
Cho, Vicki;
Bertram, Edward;
Whittle, Belinda;
Groves, Alexandra;
Goel, Himanshu

Publication type:

Article

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2122, doi. 10.1002/ajmg.a.37131

By:

Russell, Bianca;
Johnston, Jennifer J.;
Biesecker, Leslie G.;
Kramer, Nancy;
Pickart, Angela;
Rhead, William;
Tan, Wen‐Hann;
Brownstein, Catherine A.;
Kate Clarkson, L.;
Dobson, Amy;
Rosenberg, Avi Z.;
Vergano, Samantha A. Schrier;
Helm, Benjamin M.;
Harrison, Rachel E.;
Graham, John M.

Publication type:

Article

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2017, doi. 10.1002/ajmg.a.37132

By:

Olson, Heather E.;
Tambunan, Dimira;
LaCoursiere, Christopher;
Goldenberg, Marti;
Pinsky, Rebecca;
Martin, Emilie;
Ho, Eugenia;
Khwaja, Omar;
Kaufmann, Walter E.;
Poduri, Annapurna

Publication type:

Article

Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2188, doi. 10.1002/ajmg.a.37133

By:

Li, You;
Garrod, Andrea S.;
Madan‐Khetarpal, Suneeta;
Sreedher, Gayathri;
McGuire, Marianne;
Yagi, Hisato;
Klena, Nikolai T.;
Gabriel, George C.;
Khalifa, Omar;
Zahid, Maliha;
Panigrahy, Ashok;
Weiner, Daniel J.;
Lo, Cecilia W.

Publication type:

Article

Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2098, doi. 10.1002/ajmg.a.37134

By:

Hashemi, Bita;
Bassett, Anne;
Chitayat, David;
Chong, Karen;
Feldman, Mark;
Flanagan, Janine;
Goobie, Sharan;
Kawamura, Anne;
Lowther, Chelsea;
Prasad, Chitra;
Siu, Victoria;
So, Joyce;
Tung, Sharon;
Speevak, Marsha;
Stavropoulos, Dimitri J.;
Carter, Melissa T.

Publication type:

Article

A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2223, doi. 10.1002/ajmg.a.37135

By:

Kuroda, Yukiko;
Ohashi, Ikuko;
Enomoto, Yumi;
Naruto, Takuya;
Baba, Naoko;
Tanaka, Yukichi;
Aida, Noriko;
Okamoto, Nobuhiko;
Niihori, Tetsuya;
Aoki, Yoko;
Kurosawa, Kenji

Publication type:

Article

Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2114, doi. 10.1002/ajmg.a.37138

By:

Shehata, Bahig M.;
Cundiff, Caitlin A.;
Lee, Kevin;
Sabharwal, Ankit;
Lalwani, Mukesh Kumar;
Davis, Angela K.;
Agrawal, Vartika;
Sivasubbu, Sridhar;
Iannucci, Glen J.;
Gibson, Greg

Publication type:

Article

10 years later: Assessing the impact of public health efforts on the collection of family health history.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2026, doi. 10.1002/ajmg.a.37139

By:

Welch, Brandon M.;
O'Connell, Nathaniel;
Schiffman, Joshua D.

Publication type:

Article

Phenotype of a child with Angelman syndrome born to a woman with Prader-Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2138, doi. 10.1002/ajmg.a.37080

By:

Ostergaard, John R.

Publication type:

Article

Duplication of HEY2 in cardiac and neurologic development.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2145, doi. 10.1002/ajmg.a.37086

By:

Jordan, Valerie K.;
Rosenfeld, Jill A.;
Lalani, Seema R.;
Scott, Daryl A.

Publication type:

Article

Catatonia in an adolescent with velo-cardio-facial syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2150, doi. 10.1002/ajmg.a.37087

By:

Faedda, Gianni L.;
Wachtel, Lee E.;
Higgins, Anne Marie;
Shprintzen, Robert J.

Publication type:

Article

Birth prevalence of Robin sequence in the Netherlands from 2000-2010: a retrospective population-based study in a large Dutch cohort and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1972, doi. 10.1002/ajmg.a.37150

By:

Paes, Emma C.;
van Nunen, Daan P. F.;
Basart, Hanneke;
Don Griot, J. Peter W.;
van Hagen, Johanna M.;
van der Horst, Chantal M. A. M.;
van den Boogaard, Marie‐José H.;
Breugem, Corstiaan C.

Publication type:

Article

Etiology and pathogenesis of robin sequence in a large Dutch cohort.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1983, doi. 10.1002/ajmg.a.37154

By:

Basart, Hanneke;
Paes, Emma C.;
Maas, Saskia M.;
van den Boogaard, Marie‐Jose H.;
van Hagen, Johanna M.;
Breugem, Corstiaan C.;
Cobben, Jan Maarten;
Don Griot, J. Peter W.;
Lachmeijer, Augusta M. A.;
Lichtenbelt, Klaske D.;
van Nunen, Daan P. F.;
van der Horst, Chantal M.;
Hennekam, Raoul C.

Publication type:

Article

The fetal brain transcriptome and neonatal behavioral phenotype in the Ts1Cje mouse model of Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1993, doi. 10.1002/ajmg.a.37156

By:

Guedj, Faycal;
Pennings, Jeroen L. A.;
Ferres, Millie A.;
Graham, Leah C.;
Wick, Heather C.;
Miczek, Klaus A.;
Slonim, Donna K.;
Bianchi, Diana W.

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 167A, Number 9, September 2015.

Published in:: 2015
Publication type:: Other

Table of Contents, Volume 167A, Number 9, September 2015.

Published in:: 2015
Publication type:: Other

A 3-year-old girl with Trisomy 18 and intussusception with Meckel's diverticulum.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2226, doi. 10.1002/ajmg.a.37109

By:

Huntingford, Kate;
Montalto, Simon Attard;
Choudhry, Muhammad

Publication type:

Article

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2052, doi. 10.1002/ajmg.a.37120

By:

Barber, John C. K.;
Rosenfeld, Jill A.;
Graham, John M.;
Kramer, Nancy;
Lachlan, Katherine L.;
Bateman, Mark S.;
Collinson, Morag N.;
Stadheim, Barbro Fossøy;
Turner, Claire L. S.;
Gauthier, Jacqueline N.;
Reimschisel, Tyler E.;
Qureshi, Athar M.;
Dabir, Tabib A.;
Humphreys, Mervyn W.;
Marble, Michael;
Huang, Taosheng;
Beal, Sarah J.;
Massiah, Joanne;
Taylor, Emma‐Jane;
Wynn, Sarah L.

Publication type:

Article

Proceedings from the Turner Resource Network symposium: The crossroads of health care research and health care delivery.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1962, doi. 10.1002/ajmg.a.37121

By:

Backeljauw, Philippe F.;
Bondy, Carolyn;
Chernausek, Steven D.;
Cernich, Joseph T.;
Cole, David A.;
Fasciano, Laura P.;
Foodim, Joan;
Hawley, Scott;
Hong, David S.;
Knickmeyer, Rebecca C.;
Kruszka, Paul;
Lin, Angela E.;
Lippe, Barbara M.;
Lorigan, Gary A.;
Maslen, Cheryl L.;
Mauras, Nelly;
Page, David C.;
Pemberton, Victoria L.;
Prakash, Siddharth K.;
Quigley, Charmian A.

Publication type:

Article

Experience of a skeletal dysplasia registry in Turkey: A five-years retrospective analysis.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2065, doi. 10.1002/ajmg.a.37122

By:

Kurt‐Sukur, Eda Didem;
Simsek‐Kiper, Pelin Ozlem;
Utine, Gülen Eda;
Boduroglu, Koray;
Alanay, Yasemin

Publication type:

Article

Pain interference in youth with neurofibromatosis type 1 and plexiform neurofibromas and relation to disease severity, social-emotional functioning, and quality of life.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2103, doi. 10.1002/ajmg.a.37123

By:

Wolters, Pamela L.;
Burns, Katherine M.;
Martin, Staci;
Baldwin, Andrea;
Dombi, Eva;
Toledo‐Tamula, Mary Anne;
Dudley, William N.;
Gillespie, Andrea;
Widemann, Brigitte C.

Publication type:

Article

Risk factors for Dandy-Walker malformation: A population-based assessment.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2009, doi. 10.1002/ajmg.a.37124

By:

Reeder, Matthew R.;
Botto, Lorenzo D.;
Keppler‐Noreuil, Kim M.;
Carey, John C.;
Byrne, Janice L. B.;
Feldkamp, Marcia L.

Publication type:

Article

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2154, doi. 10.1002/ajmg.a.37125

By:

Basuta, Kirin;
Schneider, Andrea;
Gane, Louise;
Polussa, Jonathan;
Woodruff, Bryan;
Pretto, Dalyir;
Hagerman, Randi;
Tassone, Flora

Publication type:

Article

Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2168, doi. 10.1002/ajmg.a.37126

By:

Zarate, Yuri A.;
Bosanko, Katherine A.;
Bhoj, Elizabeth;
Ganetzky, Rebecca;
Starr, Lois J.;
Zackai, Elaine H.;
Schaefer, G. Bradley

Publication type:

Article

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2075, doi. 10.1002/ajmg.a.37127

By:

Ktena, Yiouli P.;
Paul, Scott M.;
Hauser, Natalie S.;
Sloan, Jennifer L.;
Gropman, Andrea;
Manoli, Irini;
Venditti, Charles P.

Publication type:

Article

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2085, doi. 10.1002/ajmg.a.37128

By:

Gripp, Karen W.;
Sol‐Church, Katia;
Smpokou, Patroula;
Graham, Gail E.;
Stevenson, David A.;
Hanson, Heather;
Viskochil, David H.;
Baker, Laura C.;
Russo, Bridget;
Gardner, Nick;
Stabley, Deborah L.;
Kolbe, Verena;
Rosenberger, Georg

Publication type:

Article

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2176, doi. 10.1002/ajmg.a.37129

By:

Couser, Natario L.;
Masood, Maheer M.;
Strande, Natasha T.;
Foreman, Ann Katherine M.;
Crooks, Kristy;
Weck, Karen E.;
Lu, Mei;
Wilhelmsen, Kirk C.;
Roche, Myra;
Evans, James P.;
Berg, Jonathan S.;
Powell, Cynthia M.

Publication type:

Article

Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2197, doi. 10.1002/ajmg.a.37140

By:

Campbell, Matthew J.;
Czosek, Richard J.;
Hinton, Robert B.;
Miller, Erin M.

Publication type:

Article

Of mice and cats (both calico): Mary F Lyon, FRS (1925-2014).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1957, doi. 10.1002/ajmg.a.37141

By:

Opitz, John M.

Publication type:

Article

Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2219, doi. 10.1002/ajmg.a.37142

By:

Palumbo, Pietro;
Palumbo, Orazio;
Leone, Maria Pia;
Stallone, Raffaella;
Palladino, Teresa;
Zelante, Leopoldo;
Carella, Massimo

Publication type:

Article

A familial 7q36.3 duplication associated with agenesis of the corpus callosum.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2201, doi. 10.1002/ajmg.a.37143

By:

Wong, Keith;
Moldrich, Randal;
Hunter, Matthew;
Edwards, Matthew;
Finlay, David;
O'Donnell, Sheridan;
MacDougall, Tom;
Bain, Nicole;
Kamien, Benjamin

Publication type:

Article

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2162, doi. 10.1002/ajmg.a.37144

By:

Ziats, Mark N.;
Comeaux, Mathew S.;
Yang, Yaping;
Scaglia, Fernando;
Elsea, Sarah H.;
Sun, Qin;
Beaudet, Arthur L.;
Schaaf, Christian P.

Publication type:

Article

Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2209, doi. 10.1002/ajmg.a.37148

By:

Pollack, Sarah F.;
Geffrey, Alexandra L.;
Thiele, Elizabeth A.;
Shah, Uzma

Publication type:

Article

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2132, doi. 10.1002/ajmg.a.37092

By:

Bayram, Yavuz;
Aydin, Hatip;
Gambin, Tomasz;
Akdemir, Zeynep Coban;
Atik, Mehmed M.;
Karaca, Ender;
Karaman, Ali;
Pehlivan, Davut;
Jhangiani, Shalini N.;
Gibbs, Richard A.;
Lupski, James R.

Publication type:

Article

Genetic factors may underlie many cerebral palsy cases.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. vii, doi. 10.1002/ajmg.a.37283
Publication type:: Article

Copy number variants linked to intellectual disability, less education.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. viii, doi. 10.1002/ajmg.a.37284
Publication type:: Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. x, doi. 10.1002/ajmg.a.37285
Publication type:: Article

Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2034, doi. 10.1002/ajmg.a.37117

By:

Martínez‐Fernández, María Luisa;
Fernández‐Toral, Joaquin;
Llano‐Rivas, Isabel;
Bermejo‐Sánchez, Eva;
MacDonald, Alexandra;
Martínez‐Frías, María Luisa

Publication type:

Article

A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2042, doi. 10.1002/ajmg.a.37118

By:

Salpietro, Vincenzo;
Ruggieri, Martino;
Mankad, Kshitij;
Di Rosa, Gabriella;
Granata, Francesca;
Loddo, Italia;
Moschella, Emanuela;
Calabro, Maria Pia;
Capalbo, Anna;
Bernardini, Laura;
Novelli, Antonio;
Polizzi, Agata;
Seidler, Daniela G.;
Arrigo, Teresa;
Briuglia, Silvana

Publication type:

Article

Autistic and Rett-like features associated with 2q33.3-q34 interstitial deletion.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2213, doi. 10.1002/ajmg.a.37119

By:

Jang, Dae‐Hyun;
Chae, Hyojin;
Kim, Myungshin

Publication type:

Article