Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 5

Results: 51

A case of Rubinstein-Taybi syndrome and congenital neuroblastoma.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1332, doi. 10.1002/ajmg.a.36399

By:

de Kort, Ellen;
Conneman, Nikk;
Diderich, Karin

Publication type:

Article

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1175, doi. 10.1002/ajmg.a.36431

By:

Bonafé, Luisa;
Liang, Jinlong;
Gorna, Maria W.;
Zhang, Qingyan;
Ha‐Vinh, Russia;
Campos‐Xavier, Ana Belinda;
Unger, Sheila;
Beckmann, Jacques S.;
Le Béchec, Antony;
Stevenson, Brian;
Giedion, Andres;
Liu, Xuanzhu;
Superti‐Furga, Giulio;
Wang, Wei;
Spahr, André;
Superti‐Furga, Andrea

Publication type:

Article

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1289, doi. 10.1002/ajmg.a.36442

By:

Lederer, Damien;
Shears, Debbie;
Benoit, Valérie;
Verellen‐Dumoulin, Christine;
Maystadt, Isabelle

Publication type:

Article

Table of Contents, Volume 164A, Number 5, May 2014.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. fm i, doi. 10.1002/ajmg.a.36596
Publication type:: Article

Cardiac manifestations of Pallister-Killian syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1130, doi. 10.1002/ajmg.a.36413

By:

Tilton, Richard K.;
Wilkens, Alisha;
Krantz, Ian D.;
Izumi, Kosuke

Publication type:

Article

Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1094, doi. 10.1002/ajmg.a.36453

By:

Miller, Christine E.;
Krautscheid, Patti;
Baldwin, Erin E.;
Tvrdik, Tatiana;
Openshaw, Amanda S.;
Hart, Kim;
LaGrave, Danielle

Publication type:

Article

Erratum to 'Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome', Am J Med Genet Part A 161A:1638-1646.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1346, doi. 10.1002/ajmg.a.36493

By:

Chapleau, Christopher A.;
Lane, Jane;
Kirwin, Susan;
Schanen, Carolyn;
Vinette, Kathy M. B.;
Stubbolo, Danielle;
MacLeod, Patrick;
Glaze, Daniel G.;
Motil, Kathleen J.;
Neul, Jeffrey L.;
Skinner, Steven A.;
Kaufmann, Walter E.;
Percy, Alan K.

Publication type:

Article

Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1162, doi. 10.1002/ajmg.a.36424

By:

Borlot, Felippe;
Arantes, Paula Ricci;
Quaio, Caio Robledo;
Franco, José Francisco da Silva;
Lourenço, Charles Marques;
Gomy, Israel;
Bertola, Debora Romeo;
Kim, Chong Ae

Publication type:

Article

An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1192, doi. 10.1002/ajmg.a.36435

By:

Harper, Lorie M.;
Sutton, Amelia L.M.;
Longman, Ryan E.;
Odibo, Anthony O.

Publication type:

Article

Pneumothorax from subpleural blebs-A new association of sotos syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1222, doi. 10.1002/ajmg.a.36406

By:

Balasubramanian, Meena;
Shearing, Emma;
Smith, Kath;
Chavasse, R.;
Taylor, R.;
Tatton‐Brown, Katrina;
Primhak, Robert;
Ugonna, Kelechi;
Parker, Michael J.

Publication type:

Article

Autism and anxiety in males with fragile X syndrome: An exploratory analysis of neurobehavioral profiles from a parent survey.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1198, doi. 10.1002/ajmg.a.36468

By:

Talisa, Victor B.;
Boyle, Lia;
Crafa, Daina;
Kaufmann, Walter E.

Publication type:

Article

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1277, doi. 10.1002/ajmg.a.36439

By:

Bartholdi, Deborah;
Stray‐Pedersen, Asbjørg;
Azzarello‐Burri, Silvia;
Kibaek, Maria;
Kirchhoff, Maria;
Oneda, Beatrice;
Rødningen, Olaug;
Schmitt‐Mechelke, Thomas;
Rauch, Anita;
Kjaergaard, Susanne

Publication type:

Article

Laboratory policies on reporting secondary findings in clinical whole exome sequencing: Initial uptake of the ACMG's recommendations.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1328, doi. 10.1002/ajmg.a.36398

By:

Hufnagel, Sophia B.;
Antommaria, Armand H.

Publication type:

Article

Unexpected exome sequencing result: De novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1334, doi. 10.1002/ajmg.a.36430

By:

Casci, Ian;
Accousti, William;
Lacassie, Yves

Publication type:

Article

Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1118, doi. 10.1002/ajmg.a.36401

By:

Al‐Kateb, Hussam;
Khanna, Geetika;
Filges, Isabel;
Hauser, Natalie;
Grange, Dorothy K.;
Shen, Joseph;
Smyser, Christopher D.;
Kulkarni, Shashikant;
Shinawi, Marwan

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 164A, Number 5, May 2014.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. C1, doi. 10.1002/ajmg.a.36595
Publication type:: Article

Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1254, doi. 10.1002/ajmg.a.36412

By:

Masri, Amira;
Gimelli, Stefania;
Hamamy, Hanan;
Sloan‐Béna, Frédérique

Publication type:

Article

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1310, doi. 10.1002/ajmg.a.36452

By:

Lehalle, Daphné;
Sanlaville, Damien;
Guimier, Anne;
Plouvier, Emmanuel;
Leblanc, Thierry;
Galmiche, Louise;
Radford, Isabelle;
Romana, Serge;
Colleaux, Laurence;
de Pontual, Loïc;
Lyonnet, Stanislas;
Amiel, Jeanne

Publication type:

Article

Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1151, doi. 10.1002/ajmg.a.36423

By:

Fatima, Tasneem;
Zaidi, Syed Aley Hasan;
Sarfraz, Noorjehan;
Perween, Siddiqa;
Khurshid, Faraz;
Imtiaz, Fauzia

Publication type:

Article

Exome analysis of connective tissue dysplasia: Death and rebirth of clinical genetics?

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1209, doi. 10.1002/ajmg.a.36463

By:

Wilson, Golder N.

Publication type:

Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. x, doi. 10.1002/ajmg.a.36577
Publication type:: Article

Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1180, doi. 10.1002/ajmg.a.36434

By:

Naiki, Misako;
Ochi, Nobuhiko;
Kato, Yusuke S.;
Purevsuren, Jamiyan;
Yamada, Kenichiro;
Kimura, Reiko;
Fukushi, Daisuke;
Hara, Shinya;
Yamada, Yasukazu;
Kumagai, Toshiyuki;
Yamaguchi, Seiji;
Wakamatsu, Nobuaki

Publication type:

Article

Hypoglycemia in Prader-Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1127, doi. 10.1002/ajmg.a.36405

By:

Harrington, Rena A.;
Weinstein, David A.;
Miller, Jennifer L.

Publication type:

Article

An intragenic deletion of the gene MNAT1 in a family with pectus deformities.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1293, doi. 10.1002/ajmg.a.36445

By:

Heithaus, Jennifer L.;
Davenport, Sandra;
Twyman, Kimberly A.;
Torti, Erin E.;
Batanian, Jacqueline R.

Publication type:

Article

The intellectual disabilities evaluation and advice system (IDEAS): Outcome of the first 55 cases.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1102, doi. 10.1002/ajmg.a.36456

By:

Hunter, Alasdair G.W.;
Graham, John M.;
Neri, Giovanni;
Rogers, R. Curtis;
Stevenson, Roger E.;
Turner, Gillian;
Friez, Michael J.

Publication type:

Article

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1143, doi. 10.1002/ajmg.a.36427

By:

Valencia, María;
Caparrós‐Martin, Jose A.;
Sirerol‐Piquer, María Salomé;
García‐Verdugo, José Manuel;
Martínez‐Glez, Víctor;
Lapunzina, Pablo;
Temtamy, Samia;
Aglan, Mona;
Lund, Allan M.;
Nikkels, Peter G. J.;
Ruiz‐Perez, Victor L.;
Ostergaard, Elsebet

Publication type:

Article

Analysis of two candidate genes for Basan syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1188, doi. 10.1002/ajmg.a.36438

By:

Marks, Katherine C.;
Banks, Wesley R.;
Cunningham, David;
Witman, Patricia M.;
Herman, Gail E.

Publication type:

Article

Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1136, doi. 10.1002/ajmg.a.36409

By:

Guillén‐Navarro, Encarna;
Ballesta‐Martínez, María Juliana;
Valencia, María;
Bueno, Ana María;
Martinez‐Glez, Victor;
López‐González, Vanesa;
Burnyte, Birute;
Utkus, Algirdas;
Lapunzina, Pablo;
Ruiz‐Perez, Victor L.

Publication type:

Article

De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1341, doi. 10.1002/ajmg.a.36449

By:

Garg, Abhimanyu;
Xing, Chao

Publication type:

Article

Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1284, doi. 10.1002/ajmg.a.36440

By:

Zeydan, Burcu;
Benbir, Gulcin;
Uluduz, Derya;
Ince, Birsen;
Goksan, Baki;
Islak, Civan

Publication type:

Article

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: Report of three affected patients.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1245, doi. 10.1002/ajmg.a.36411

By:

Greally, Marie T.;
Kalis, Neale N.;
Agab, Wahid;
Ardati, Kasim;
Giurgea, Sanda;
Kornak, Uwe;
Van Maldergem, Lionel

Publication type:

Article

A tortuous proximal urethra in urorectal septum malformation sequence?

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1298, doi. 10.1002/ajmg.a.36451

By:

Lin, Henry J.;
Lugo, Hector;
Tran, Thu;
Tovar, Jason P.;
Corral, Julia;
Zork, Noelia M.;
Smith, Lynne M.;
French, Samuel W.;
Barajas, Luciano

Publication type:

Article

Gender plays role in predicting neuronal dysfunction for patients with neurofibromatosis 1.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. viii, doi. 10.1002/ajmg.a.36576
Publication type:: Article

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1272, doi. 10.1002/ajmg.a.36433

By:

Narumi, Yoko;
Nishina, Sachiko;
Tokimitsu, Motoharu;
Aoki, Yoko;
Kosaki, Rika;
Wakui, Keiko;
Azuma, Noriyuki;
Murata, Toshinori;
Takada, Fumio;
Fukushima, Yoshimitsu;
Kosho, Tomoki

Publication type:

Article

Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1218, doi. 10.1002/ajmg.a.36404

By:

Zmolikova, Michaela;
Puchmajerova, Alena;
Hecht, Petr;
Lebl, Jan;
Trkova, Marie;
Krepelova, Anna

Publication type:

Article

The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1204, doi. 10.1002/ajmg.a.36444

By:

Gonçalves, Fernanda T.;
Fridman, Cintia;
Pinto, Emília M.;
Guevara‐Aguirre, Jaime;
Shevah, Orit;
Rosembloom, Arlan L.;
Hwa, Vivian;
Cassorla, Fernando;
Rosenfeld, Ron G.;
Lins, Theresa S.S.;
Damiani, Durval;
Arnhold, Ivo J.P.;
Laron, Zvi;
Jorge, Alexander A.L.

Publication type:

Article

Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1268, doi. 10.1002/ajmg.a.36415

By:

Somsen, David;
Davis‐Keppen, Laura;
Crotwell, Patricia;
Flanagan, Jason;
Munson, Patrick;
Stein, Quinn

Publication type:

Article

Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: Novel evidence for a new condition?

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1085, doi. 10.1002/ajmg.a.36426

By:

Valdez, Carolina M.;
Altmayer, Stephan P.L.;
Barrow, McArthur A.;
Telles, Jorge A.B.;
Betat, Rosilene da S.;
Zen, Paulo R.G.;
Rosa, Rafael F.M.

Publication type:

Article

Long-term observation of a patient with dominant omodysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1234, doi. 10.1002/ajmg.a.36408

By:

Gordon, Barbara L.;
Champaigne, Neena L.;
Rogers, R. Curtis;
Frias, Jaime L.;
Leroy, Jules G.

Publication type:

Article

Challenges of classifying double outlet right ventricle: Importance for genotype-phenotype analyses.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1340, doi. 10.1002/ajmg.a.36448

By:

Silvestri, Lucia Martina;
Scarabotti, Alessia;
Marino, Bruno

Publication type:

Article

Yunis-varon syndrome: Further delineation of cardiovascular and endocrine outcome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1213, doi. 10.1002/ajmg.a.35741

By:

Varghese, P.;
Collins, N.;
Warner, G.;
Leitch, J.;
Ho, E.;
Crock, P.

Publication type:

Article

Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1322, doi. 10.1002/ajmg.a.36008

By:

Kariminejad, Ariana;
Bozorgmehr, Bita;
Alizadeh, Houman;
Ghaderi‐Sohi, Siavash;
Toksoy, Güven;
Uyguner, Zehra Oya;
Kayserili, Hülya

Publication type:

Article

Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1239, doi. 10.1002/ajmg.a.36410

By:

Zamani, Ayse Gul;
Acar, Aynur;
Durakbasi‐Dursun, Gul;
Yildirim, M. Selman;
Ceylaner, Serdar;
Tuncez, Ebru

Publication type:

Article

Patient advocates as partners in genetic research.

Published in:: American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. vii, doi. 10.1002/ajmg.a.36575
Publication type:: Article

An amnion implantation hypothesis: A conceptual framework for mechanism-based studies of amnion adhesion.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1092, doi. 10.1002/ajmg.a.36403

By:

Johnson, Dennis R.;
Opitz, John M.

Publication type:

Article

The Still Point of the Turning World.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1338, doi. 10.1002/ajmg.a.36443

By:

Nowaczyk, Małgorzata J.M.

Publication type:

Article

Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1262, doi. 10.1002/ajmg.a.36414

By:

Ruggieri, Martino;
Pavone, Vito;
Polizzi, Agata;
Falsaperla, Raffaele;
Fichera, Marco;
Pavone, Piero

Publication type:

Article

Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1318, doi. 10.1002/ajmg.a.36454

By:

Rasmussen, Maria;
Sunde, Lone;
Weigert, Karen Petra;
Bogaard, Pauline Wilhemina;
Lildballe, Dorte L.

Publication type:

Article

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1170, doi. 10.1002/ajmg.a.36425

By:

Migliavacca, Michele P.;
Sobreira, Nara L. M.;
Antonialli, Graziela P.M.;
Oliveira, Mariana M.;
Melaragno, Maria Isabel S.A.;
Casteels, Ingele;
de Ravel, Thomy;
Brunoni, Decio;
Valle, David;
Perez, Ana Beatriz A.

Publication type:

Article

Monochorionic twins discordant for mosaic trisomy 14.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1227, doi. 10.1002/ajmg.a.36407

By:

He, Mai;
Pepperell, John R.;
Gundogan, Fusun;
De Paepe, Monique E.;
Maggio, Lindsay;
Lu, Shaolei;
Kostadinov, Stefan;
O'Brien, Barbara;
DeLaMonte, Suzanne;
Pinar, Halit;
Tantravahi, Umadevi

Publication type:

Article