Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 3

Results: 39

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 479, doi. 10.1002/ajmg.a.35761
By:
- D'Angelo, Carla Sustek;
- Kohl, Ilana;
- Varela, Monica Castro;
- de Castro, Cláudia Irene Emílio;
- Kim, Chong Ae;
- Bertola, Débora Romeo;
- Lourenço, Charles Marques;
- Perez, Ana Beatriz Alvarez;
- Koiffmann, Celia Priszkulnik
Publication type:
Article
8p23.1 duplication detected by array-CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 561, doi. 10.1002/ajmg.a.35596
By:
- Zhang, Yanliang;
- Li, Ya;
- Wang, Yuming;
- Shan, Bin;
- Duan, Yong
Publication type:
Article
Anterolateral congenital diaphragmatic hernia with omphalocele: A case report and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 585, doi. 10.1002/ajmg.a.35703
By:
- Scahill, Michael D.;
- Maak, Petruska;
- Kunder, Christian;
- Halamek, Louis P.
Publication type:
Article
ACOG approves new trisomy screen for high-risk pregnancies.
Published in:
2013
Publication type:
Other
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 626, doi. 10.1002/ajmg.a.35758
By:
- Meyer, Sascha;
- Löffler, Günther;
- Gencik, Martin;
- Fries, Peter;
- Papanagiotou, Panagiotis;
- Oehl‐Jaschkowitz, Barbara;
- Gortner, Ludwig
Publication type:
Article
Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 501, doi. 10.1002/ajmg.a.35769
By:
- Samango‐Sprouse, Carole A.;
- Sadeghin, Teresa;
- Mitchell, Francine L;
- Dixon, Teresa;
- Stapleton, Emily;
- Kingery, Madison;
- Gropman, Andrea L.
Publication type:
Article
Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 518, doi. 10.1002/ajmg.a.35772
By:
- Narumi, Yoko;
- Min, Byung‐Joo;
- Shimizu, Kenji;
- Kazukawa, Itsuro;
- Sameshima, Kiyoko;
- Nakamura, Koichi;
- Kosho, Tomoki;
- Rhee, Yumie;
- Chung, Yoon‐Sok;
- Kim, Ok‐Hwa;
- Fukushima, Yoshimitsu;
- Park, Woong‐Yang;
- Nishimura, Gen
Publication type:
Article
Successful PGD cycles for mosaic Robertsonian translocation carriers provide insights into the mechanism of formation of the derivative chromosomes.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 566, doi. 10.1002/ajmg.a.35600
By:
- Bint, Susan M.;
- Scriven, Paul N.;
- Ogilvie, Caroline Mackie
Publication type:
Article
Novel FREM1 mutations expand the phenotypic spectrum associated with manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 473, doi. 10.1002/ajmg.a.35736
By:
- Nathanson, Jared;
- Swarr, Daniel T.;
- Singer, Amihood;
- Liu, Mochi;
- Chinn, Amy;
- Jones, Wendy;
- Hurst, Jane;
- Khalek, Nahla;
- Zackai, Elaine;
- Slavotinek, Anne
Publication type:
Article
A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 467, doi. 10.1002/ajmg.a.35718
By:
- Muram, Talia M.;
- Stevenson, David A.;
- Watts‐Justice, Sarah;
- Viskochil, David H.;
- Carey, John C.;
- Mao, Rong;
- Jackson, Brian
Publication type:
Article
Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 542, doi. 10.1002/ajmg.a.35794
By:
- Lohn, Zoe;
- Adam, Shelin;
- Birch, Patricia;
- Townsend, Anne;
- Friedman, Jan
Publication type:
Article
Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 417, doi. 10.1002/ajmg.a.35765
By:
- Toriello, Helga V.;
- Erick, Miriam;
- Alessandri, Jean‐Luc;
- Bailey, Diana;
- Brunetti‐Pierri, Nicola;
- Cox, Helen;
- Fryer, Alan;
- Marty, Denise;
- McCurdy, Charles;
- Mulliken, John B.;
- Murphy, Helen;
- Omlor, Joseph;
- Pauli, Richard M.;
- Ranells, Judith D.;
- Sanchez‐Valle, Amarillis;
- Tobiasz, Ana;
- Van Maldergem, Lionel;
- Lin, Angela E.
Publication type:
Article
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 572, doi. 10.1002/ajmg.a.35691
By:
- Ghanim, Mustafa;
- Rossignol, Sylvie;
- Delobel, Bruno;
- Irving, Melita;
- Miller, Owen;
- Devisme, Louise;
- Plennevaux, Jean‐Louis;
- Lucidarme‐Rossi, Sophie;
- Manouvrier, Sylvie;
- Salah, Azzi;
- Chivu, Olimpia;
- Netchine, Irène;
- Vincent‐Delorme, Catherine
Publication type:
Article
Talocalcaneal coalition in Muenke syndrome: Report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 453, doi. 10.1002/ajmg.a.35233
By:
- Agochukwu, Nneamaka B.;
- Solomon, Benjamin D.;
- Benson, Laurel J.;
- Muenke, Maximilian
Publication type:
Article
In this issue.
Published in:
2013
Publication type:
Other
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.
Published in:
2013
By:
- Plotkin, Scott R.;
- Blakeley, Jaishri O.;
- Evans, D. Gareth;
- Hanemann, C. Oliver;
- Hulsebos, Theo J.M.;
- Hunter‐Schaedle, Kim;
- Kalpana, Ganjam V.;
- Korf, Bruce;
- Messiaen, Ludwine;
- Papi, Laura;
- Ratner, Nancy;
- Sherman, Larry S.;
- Smith, Miriam J.;
- Stemmer‐Rachamimov, Anat O.;
- Vitte, Jeremie;
- Giovannini, Marco
Publication type:
Other
Perinatal and early infantile symptoms in congenital disorders of glycosylation.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 578, doi. 10.1002/ajmg.a.35702
By:
- Funke, Simone;
- Gardeitchik, Thatjana;
- Kouwenberg, Dorus;
- Mohamed, Miski;
- Wortmann, Saskia B.;
- Korsch, Eckhard;
- Adamowicz, Maciej;
- Al‐Gazali, Lihadh;
- Wevers, Ron A.;
- Horvath, Adrienne;
- Lefeber, Dirk J.;
- Morava, Éva
Publication type:
Article
Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 589, doi. 10.1002/ajmg.a.35713
By:
- Beleza‐Meireles, Ana;
- Matoso, Eunice;
- Ramos, Lina;
- Melo, Joana B.;
- Carreira, Isabel M.;
- Silva, Eduardo D.;
- Saraiva, Jorge M.
Publication type:
Article
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 550, doi. 10.1002/ajmg.a.35809
By:
- Beck, Anita E.;
- McMillin, Margaret J.;
- Gildersleeve, Heidi I.S.;
- Kezele, Phillip R.;
- Shively, Kathryn M.;
- Carey, John C.;
- Regnier, Michael;
- Bamshad, Michael J.
Publication type:
Article
Two extraordinarily severe cases of Treacher Collins syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 445, doi. 10.1002/ajmg.a.35397
By:
- Bauer, Mislen;
- Saldarriaga, Wilmar;
- Wolfe, S. Anthony;
- Beckwith, J. Bruce;
- Frias, Jaime L.;
- Cohen Jr., M. Michael
Publication type:
Article
Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 509, doi. 10.1002/ajmg.a.35298
By:
- Park, Hyung‐Doo;
- Ko, Ah‐Ra;
- Ki, Chang‐Seok;
- Lee, Soo‐Youn;
- Kim, Jong‐Won;
- Cho, Sung Yoon;
- Kim, Se Hwa;
- Park, Sung Won;
- Sohn, Young Bae;
- Jin, Dong‐Kyu
Publication type:
Article
Table of Contents, Volume 161A, Number 3, March 2013.
Published in:
2013
Publication type:
Other
Letter to the editor: Hidden pituitary gland: Implications for assessment.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 630, doi. 10.1002/ajmg.a.35880
By:
- Paroder, Viktoriya;
- Miller, Todd;
- Shanske, Alan L.;
- Shiota, Kohei;
- Khan, Muhammad Naeem;
- Cohen Jr, M. Michael
Publication type:
Article
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 619, doi. 10.1002/ajmg.a.35792
By:
- Li, Ben C.;
- Hogue, Jacob;
- Eilers, Meg;
- Mehrotra, Pavni;
- Hyland, James;
- Holm, Tara;
- Prosen, Tracy;
- Slavotinek, Anne M.
Publication type:
Article
Validation of a new multiple osteochondromas classification through Switching Neural Networks.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 556, doi. 10.1002/ajmg.a.35819
By:
- Mordenti, Marina;
- Ferrari, Enrico;
- Pedrini, Elena;
- Fabbri, Nicola;
- Campanacci, Laura;
- Muselli, Marco;
- Sangiorgi, Luca
Publication type:
Article
Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 594, doi. 10.1002/ajmg.a.35716
By:
- Herman, Sean B.;
- Holman, Sarah K.;
- Robertson, Stephen P.;
- Davidson, Lynn;
- Taragin, Benjamin;
- Samanich, Joy
Publication type:
Article
Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: A report from the National Down Syndrome Project.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 438, doi. 10.1002/ajmg.a.35796
By:
- Hollis, NaTasha D.;
- Allen, Emily G.;
- Oliver, Tiffany Renee;
- Tinker, Stuart W.;
- Druschel, Charlotte;
- Hobbs, Charlotte A.;
- O'Leary, Leslie A.;
- Romitti, Paul A.;
- Royle, Marjorie H.;
- Torfs, Claudine P.;
- Freeman, Sallie B.;
- Sherman, Stephanie L.;
- Bean, Lora J.H.
Publication type:
Article
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 487, doi. 10.1002/ajmg.a.35767
By:
- Barber, John C.K.;
- Rosenfeld, Jill A.;
- Foulds, Nicola;
- Laird, Sophie;
- Bateman, Mark S.;
- Thomas, N. Simon;
- Baker, Samantha;
- Maloney, Viv K.;
- Anilkumar, Arayamparambil;
- Smith, Wendy E.;
- Banks, Valerie;
- Ellingwood, Sara;
- Kharbutli, Yara;
- Mehta, Lakshmi;
- Eddleman, Keith A.;
- Marble, Michael;
- Zambrano, Regina;
- Crolla, John A.;
- Lamb, Allen N.
Publication type:
Article
Hearing from parents: The impact of receiving the diagnosis of Williams syndrome in their child.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 534, doi. 10.1002/ajmg.a.35789
By:
- Waxler, Jessica L.;
- Cherniske, Elizabeth M.;
- Dieter, Kristen;
- Herd, Pamela;
- Pober, Barbara R.
Publication type:
Article
American Journal of Medical Genetics Part A: Volume 161A, Number 3, March 2013.
Published in:
2013
Publication type:
Other
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 611, doi. 10.1002/ajmg.a.35814
By:
- Castronovo, Chiara;
- Rusconi, Daniela;
- Crippa, Milena;
- Giardino, Daniela;
- Gervasini, Cristina;
- Milani, Donatella;
- Cereda, Anna;
- Larizza, Lidia;
- Selicorni, Angelo;
- Finelli, Palma
Publication type:
Article
Phenotype of Williams-Beuren syndrome in Brazilian patients: Comments on the article by Patil et al. [2012] and discussion of variable phenotypes in distinct populations.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 637, doi. 10.1002/ajmg.a.35740
By:
- Viana, Melissa Machado;
- Stofanko, Martin;
- Gonçalves‐Dornelas, Higgor;
- da Silva Cunha, Pricila;
- de Aguiar, Marcos José Burle
Publication type:
Article
Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 600, doi. 10.1002/ajmg.a.35762
By:
- Bertola, Débora R;
- Rodrigues, Melina G.;
- Quaio, Caio R.D.C.;
- Kim, Chong A.;
- Passos‐Bueno, Maria Rita
Publication type:
Article
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 527, doi. 10.1002/ajmg.a.35784
By:
- Delio, Maria;
- Pope, Kathleen;
- Wang, Tao;
- Samanich, Joy;
- Haldeman‐Englert, Chad R.;
- Kaplan, Paige;
- Shaikh, Tamim H.;
- Cai, Jinlu;
- Marion, Robert W.;
- Morrow, Bernice E.;
- Babcock, Melanie
Publication type:
Article
Prenatal peptide treatment appears promising in Down syndrome mouse model.
Published in:
2013
Publication type:
Other
Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria?
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 461, doi. 10.1002/ajmg.a.35715
By:
- van Gent, Marco W.F.;
- Velthuis, Sebastiaan;
- Post, Martijn C.;
- Snijder, Repke J.;
- Westermann, Cornelis J.J.;
- Letteboer, Tom G.W.;
- Mager, Johannes J.
Publication type:
Article
Contributions of a specialty clinic for children and adolescents with Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 430, doi. 10.1002/ajmg.a.35795
By:
- Skotko, Brian G.;
- Davidson, Emily Jean;
- Weintraub, Gil S.
Publication type:
Article
Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 605, doi. 10.1002/ajmg.a.35766
By:
- Van Mater, David;
- Knelson, Erik H.;
- Kaiser‐Rogers, Kathleen A.;
- Armstrong, Michael B.
Publication type:
Article
De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 632, doi. 10.1002/ajmg.a.35777
By:
- Resta, Nicoletta;
- De Cosmo, Lucrezia;
- Susca, Francesco Claudio;
- Capodiferro, Donatella;
- Nardone, Anna Maria;
- Pastorivo, Diana;
- Bertoli, Marta;
- Serlenga, Carmela;
- Burattini, MariaGabriella;
- Schettini, Federico;
- Laforgia, Nicola
Publication type:
Article