Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 8

Results: 41

Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1944, doi. 10.1002/ajmg.a.37090
By:
- Regier, Debra S.;
- Leon, Eyby;
- Counts, Debra R.;
- Tifft, Cynthia J.;
- Zand, Dina J.
Publication type:
Article
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1758, doi. 10.1002/ajmg.a.37093
By:
- Heald, Brandie;
- Rigelsky, Christina;
- Moran, Rocio;
- LaGuardia, Lisa;
- O'Malley, Margaret;
- Burke, Carol A.;
- Zahka, Kenneth
Publication type:
Article
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1908, doi. 10.1002/ajmg.a.37094
By:
- Thevenon, Julien;
- Michot, Caroline;
- Bole, Christine;
- Nitschke, Patrick;
- Nizon, Mathilde;
- Faivre, Laurence;
- Munnich, Arnold;
- Lyonnet, Stanislas;
- Bonnefont, Jean‐Paul;
- Portes, Vincent Des;
- Amiel, Jeanne
Publication type:
Article
Sleep profiles in children with down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1830, doi. 10.1002/ajmg.a.37096
By:
- Bassell, Julia L.;
- Phan, Han;
- Leu, Roberta;
- Kronk, Rebecca;
- Visootsak, Jeannie
Publication type:
Article
A familial interstitial 4q35 deletion with no discernible clinical effects.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1836, doi. 10.1002/ajmg.a.37097
By:
- Yakut, Sezin;
- Clarck, Ozden Altiok;
- Sanhal, Cem;
- Nur, Banu Guzel;
- Mendilcioglu, Inanc;
- Karauzum, Sibel Berker;
- Cetin, Zafer
Publication type:
Article
Consider the neuro-cardiac continuum of Coffin-Lowry syndrome!
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1954, doi. 10.1002/ajmg.a.37099
By:
- Stöllberger, Claudia;
- Finsterer, Josef
Publication type:
Article
A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1921, doi. 10.1002/ajmg.a.37110
By:
- Hu, Jie;
- Sathanoori, Malini;
- Kochmar, Sally;
- Azage, Meron;
- Mann, Susan;
- Madan‐Khetarpal, Suneeta;
- Goldstein, Amy;
- Surti, Urvashi
Publication type:
Article
Microdeletion 1p35.2: A recognizable facial phenotype with developmental delay.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1916, doi. 10.1002/ajmg.a.37114
By:
- Wilson, Brian T.;
- Omer, Murwan;
- Hellens, Stephen W.;
- Zwolinski, Simon A.;
- Yates, Laura M.;
- Lynch, Sally Ann
Publication type:
Article
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1796, doi. 10.1002/ajmg.a.37115
By:
- Garg, Abhimanyu;
- Kircher, Martin;
- del Campo, Miguel;
- Amato, R. Stephen;
- Agarwal, Anil K.
Publication type:
Article
Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1927, doi. 10.1002/ajmg.a.37116
By:
- Shukla, Anju;
- Mandal, Kausik;
- Patil, Siddaramappa J.;
- Kishore, Yougal;
- Phadke, Shubha R.;
- Girisha, Katta M.
Publication type:
Article
Compound heterozygous myotonic dystrophy type 1.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1952, doi. 10.1002/ajmg.a.36798
By:
- Finsterer, Josef;
- Zarrouk‐Mahjoub, Sinda
Publication type:
Article
Partial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic unbalanced translocation.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1859, doi. 10.1002/ajmg.a.36980
By:
- Choi, Jungyoon;
- Lee, Hojung;
- Lee, Cha Gon
Publication type:
Article
Paroxysmal supraventricular tachycardia in pregnant women and birth outcomes of their children: A population-based study.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1779, doi. 10.1002/ajmg.a.33759
By:
- Bánhidy, Ferenc;
- Ács, Nándor;
- Puhó, Erzsébet H.;
- Czeizel, Andrew E.
Publication type:
Article
American Journal of Medical Genetics Part A: Volume 167A, Number 8, August 2015.
Published in:
2015
Publication type:
Other
Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1763, doi. 10.1002/ajmg.a.37081
By:
- Stembridge, Natasha S.;
- Vandersteen, Anthony M.;
- Ghali, Neeti;
- Sawle, Philip;
- Nesbitt, Mandy;
- Pollitt, Rebecca C.;
- Ferguson, David J. P.;
- Holden, Simon;
- Elmslie, Frances;
- Henderson, Alex;
- Hulmes, David J. S.;
- Pope, F.Michael
Publication type:
Article
Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1902, doi. 10.1002/ajmg.a.37082
By:
- Garavelli, Livia;
- Cordeddu, Viviana;
- Errico, Stefania;
- Bertolini, Patrizia;
- Street, Maria Elisabeth;
- Rosato, Simonetta;
- Pollazzon, Marzia;
- Wischmeijer, Anita;
- Ivanovski, Ivan;
- Daniele, Paola;
- Bacchini, Ermanno;
- Lombardi, Alfonsa Anna;
- Izzi, Giancarlo;
- Biasucci, Giacomo;
- Del Rossi, Carmine;
- Corradi, Domenico;
- Cazzaniga, Giovanni;
- Dominici, Carlo;
- Rossi, Cesare;
- De Luca, Alessandro
Publication type:
Article
TCF12 microdeletion in a 72-year-old woman with intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1897, doi. 10.1002/ajmg.a.37083
By:
- Piard, Juliette;
- Rozé, Virginie;
- Czorny, Alain;
- Lenoir, Marion;
- Valduga, Mylène;
- Fenwick, Aimée L.;
- Wilkie, Andrew O. M.;
- Maldergem, Lionel Van
Publication type:
Article
Ataxia-telangiectasia with female fertility.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1937, doi. 10.1002/ajmg.a.37084
By:
- Dawson, Angelika J.;
- Marles, Sandra;
- Tomiuk, Michelle;
- Riordan, Diane;
- Gatti, Richard A.
Publication type:
Article
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1747, doi. 10.1002/ajmg.a.37085
By:
- Wooderchak‐Donahue, Whitney;
- VanSant‐Webb, Chad;
- Tvrdik, Tatiana;
- Plant, Parker;
- Lewis, Tracey;
- Stocks, Jennifer;
- Raney, Joshua A.;
- Meyers, Lindsay;
- Berg, Alizabeth;
- Rope, Alan F.;
- Yetman, Anji T.;
- Bleyl, Steven B.;
- Mesley, Rebecca;
- Bull, David A.;
- Collins, R. Thomas;
- Ojeda, Mayra Martinez;
- Roberts, Amy;
- Lacro, Ronald;
- Woerner, Audrey;
- Stoler, Joan
Publication type:
Article
Parental strategies to help children with phenylketonuria (PKU) cope with feeling different.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1787, doi. 10.1002/ajmg.a.37088
By:
- Zwiesele, Sheila;
- Bannick, Allison;
- Trepanier, Angela
Publication type:
Article
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1741, doi. 10.1002/ajmg.a.37089
By:
- Korf, Bruce;
- Ahmadian, Reza;
- Allanson, Judith;
- Aoki, Yoko;
- Bakker, Annette;
- Wright, Emma Burkitt;
- Denger, Brian;
- Elgersma, Ype;
- Gelb, Bruce D.;
- Gripp, Karen W.;
- Kerr, Bronwyn;
- Kontaridis, Maria;
- Lazaro, Conxi;
- Linardic, Corinne;
- Lozano, Reymundo;
- MacRae, Calum A.;
- Messiaen, Ludwine;
- Mulero‐Navarro, Sonia;
- Neel, Benjamin;
- Plotkin, Scott
Publication type:
Article
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1851, doi. 10.1002/ajmg.a.37101
By:
- Hyon, Capucine;
- Chantot‐Bastaraud, Sandra;
- Harbuz, Radu;
- Bhouri, Rakia;
- Perrot, Nicolas;
- Peycelon, Matthieu;
- Sibony, Mathilde;
- Rojo, Sandra;
- Piguel, Xavier;
- Bilan, Frederic;
- Gilbert‐Dussardier, Brigitte;
- Kitzis, Alain;
- McElreavey, Ken;
- Siffroi, Jean‐Pierre;
- Bashamboo, Anu
Publication type:
Article
Developmental status of 22 children with trisomy 18 and eight children with trisomy 13: Implications and recommendations.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1807, doi. 10.1002/ajmg.a.37102
By:
- Bruns, Deborah A.
Publication type:
Article
High plasma neurotensin levels in children with Prader-Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1773, doi. 10.1002/ajmg.a.37103
By:
- Butler, Merlin G.;
- Nelson, Tommy A.;
- Driscoll, Daniel J.;
- Manzardo, Ann M.
Publication type:
Article
Medical procedures and outcomes of Japanese patients with trisomy 18 or trisomy 13: Analysis of a nationwide administrative database of hospitalized patients.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1816, doi. 10.1002/ajmg.a.37104
By:
- Ishitsuka, Kazue;
- Matsui, Hiroki;
- Michihata, Nobuaki;
- Fushimi, Kiyohide;
- Nakamura, Tomoo;
- Yasunaga, Hideo
Publication type:
Article
Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1913, doi. 10.1002/ajmg.a.37105
By:
- Pajusalu, Sander;
- Reimand, Tiia;
- Õunap, Katrin
Publication type:
Article
Geleophysic dysplasia: A novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1949, doi. 10.1002/ajmg.a.37106
By:
- García‐Ortiz, Liliana;
- Gutiérrez‐Salinas, José;
- del Carmen Chima Galán, María;
- García, Rosa Luz Romero;
- de la Concepción A. Yerena, María
Publication type:
Article
35<sup>th</sup> Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1685, doi. 10.1002/ajmg.a.37107
By:
- Braddock, Stephen R.;
- Lipinski, Robert J.;
- Williams, Marc S.;
- Carey, John C.
Publication type:
Article
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1822, doi. 10.1002/ajmg.a.37108
By:
- Jia, Yaojuan;
- Louw, Jacoba J.;
- Breckpot, Jeroen;
- Callewaert, Bert;
- Barrea, Catherine;
- Sznajer, Yves;
- Gewillig, Marc;
- Souche, Erika;
- Dehaspe, Luc;
- Vermeesch, Joris Robert;
- Lambrechts, Diether;
- Devriendt, Koenraad;
- Corveleyn, Anniek
Publication type:
Article
A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1865, doi. 10.1002/ajmg.a.36806
By:
- Bravo‐Oro, Antonio;
- Lurie, Iosif W.;
- Elizondo‐Cárdenas, Gabriela;
- Peña‐Zepeda, Claudia;
- Salazar‐Martínez, Abel;
- Correa‐González, Cecilia;
- Castrillo, José Luis;
- Avila, Silvia;
- Esmer, Carmen
Publication type:
Article
A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1842, doi. 10.1002/ajmg.a.37057
By:
- Smyk, Marta;
- Roeder, Elizabeth;
- Cheung, Sau Wai;
- Szafranski, Przemyslaw;
- Stankiewicz, Paweł
Publication type:
Article
Whole-genome sequencing can improve care of severely ill infants.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. vi, doi. 10.1002/ajmg.a.37241
Publication type:
Article
Can adolescents make predictive genetic testing decisions?
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. viii, doi. 10.1002/ajmg.a.37242
Publication type:
Article
In this issue.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. ix, doi. 10.1002/ajmg.a.37243
Publication type:
Article
Table of Contents, Volume 167A, Number 8, August 2015.
Published in:
2015
Publication type:
Other
De novo 4q duplication/deletion in a fetus with a congenital heart defect.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1932, doi. 10.1002/ajmg.a.37005
By:
- Dayem‐Quere, Manal;
- Giuliano, Fabienne;
- Massol, Christophe;
- Piche, Marjorie;
- Paquis‐Flucklinger, Véronique;
- Karmous‐Benailly, Houda
Publication type:
Article
Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1884, doi. 10.1002/ajmg.a.37076
By:
- Tan, Ratna N. G. B.;
- Witlox, Ruben S. G. M.;
- Hilhorst‐Hofstee, Yvonne;
- Peeters‐Scholte, Cacha M. P. C. D.;
- den Hollander, Nicolette S.;
- Ruivenkamp, Claudia A. L.;
- Hoffer, Mariëtte J.V.;
- Hansson, Kerstin B.;
- van Roosmalen, Mark J.;
- Kloosterman, Wigard P.;
- Santen, Gijs W. E.
Publication type:
Article
STAR syndrome is part of the differential diagnosis of females with anorectal malformations.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1940, doi. 10.1002/ajmg.a.37078
By:
- Zarate, Yuri A.;
- Farrell, Jessica M.;
- Alfaro, Maria P.;
- Elhassan, Nahed O.
Publication type:
Article
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1890, doi. 10.1002/ajmg.a.37079
By:
- Carlsen, Ellen Ø.;
- Frengen, Eirik;
- Fannemel, Madeleine;
- Misceo, Doriana
Publication type:
Article
Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1872, doi. 10.1002/ajmg.a.37075
By:
- Gagliardi, Lucia;
- Nataren, Nathalie;
- Feng, Jinghua;
- Schreiber, Andreas W.;
- Hahn, Christopher N.;
- Conwell, Louise S.;
- Coman, David;
- Scott, Hamish S.
Publication type:
Article
12q21.2q22 deletion: A new patient.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1877, doi. 10.1002/ajmg.a.37077
By:
- Oliveira, Renata;
- Pereira, Cristina;
- Melo, Joana B.;
- Mesquita, Sandra;
- Venâncio, Margarida;
- Carreira, Isabel Marques;
- Saraiva, Jorge
Publication type:
Article