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