Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 11

Results: 46

Table of Contents, Volume 176A, Number 11, November 2018.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2227, doi. 10.1002/ajmg.a.61023
Publication type:: Article

Cover Image, Volume 176A, Number 11, November 2018.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. i, doi. 10.1002/ajmg.a.61022

By:

Burren, Christine P.;
Caswell, Richard;
Castle, Bruce;
Welch, C. Ross;
Hilliard, Tom N.;
Smithson, Sarah F.;
Ellard, Sian

Publication type:

Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2236, doi. 10.1002/ajmg.a.60673
Publication type:: Article

New Pachygyria Syndrome Linked to Actin Regulation Identified: When mutated, CTNNA2 leads to a new form of pachygyria that has a diffuse anterior‐posterior gradient with cerebellar hypoplasia, thinning corpus callosum, and absent anterior commissure

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2234, doi. 10.1002/ajmg.a.60672
Publication type:: Article

Opitz Award Winner Defines Down Syndrome in Diverse Populations: Research will help clinicians identify patients with Down syndrome in non‐European populations.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2233, doi. 10.1002/ajmg.a.60671
Publication type:: Article

Multicenter study of mortality in achondroplasia.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2359, doi. 10.1002/ajmg.a.40528

By:

Hashmi, S. Shahrukh;
Gamble, Candace;
Hoover‐Fong, Julie;
Alade, Adekemi Yewande;
Pauli, Richard M.;
Modaff, Peggy;
Carney, Meagan;
Brown, Cassondra;
Bober, Michael B.;
Hecht, Jacqueline T.

Publication type:

Article

The effect of steroid treatment on weight in nonambulatory males with Duchenne muscular dystrophy.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2350, doi. 10.1002/ajmg.a.40517

By:

Lamb, Molly M.;
Cai, Bo;
Royer, Julie;
Pandya, Shree;
Soim, Aida;
Valdez, Rodolfo;
DiGuiseppi, Carolyn;
James, Katherine;
Whitehead, Nedra;
Peay, Holly;
Venkatesh, Swamy Y.;
Matthews, Dennis

Publication type:

Article

Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2487, doi. 10.1002/ajmg.a.40516

By:

Eaton, Alison;
Bernier, Francois P.;
Goedhart, Caitlin;
Caluseriu, Oana;
Lamont, Ryan E.;
Boycott, Kym M.;
Parboosingh, Jillian S.;
Innes, A. Micheil

Publication type:

Article

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2509, doi. 10.1002/ajmg.a.40515

By:

Lefebvre, Mathilde;
Beaufrere, Anne‐Marie;
Francannet, Christine;
Laurichesse, Helene;
Poe, Charlotte;
Jouan, Thibaud;
Troude, Baptiste;
Dechelotte, Pierre;
Vabres, Pierre;
Briard, Marie;
Mosca‐Boidron, Anne‐Laure;
Duffourd, Yannis;
Faivre, Laurence;
Thevenon, Julien;
Thauvin‐Robinet, Christel

Publication type:

Article

Small 4p16.3 deletions: Three additional patients and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2501, doi. 10.1002/ajmg.a.40512

By:

Bernardini, Laura;
Radio, Francesca C.;
Acquaviva, Fabio;
Gorgone, Cristina;
Postorivo, Diana;
Torres, Barbara;
Alesi, Viola;
Magliozzi, Monia;
Lonardo, Fortunato;
Monica, Matteo Della;
Nardone, Anna M.;
Cesario, Claudia;
Mattina, Teresa;
Scarano, Gioacchino;
Dallapiccola, Bruno;
Digilio, Maria C.;
Novelli, Antonio

Publication type:

Article

Risk of Down syndrome birth: Consanguineous marriage is associated with maternal meiosis‐II nondisjunction at younger age and without any detectable recombination error.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2342, doi. 10.1002/ajmg.a.40511

By:

Ray, Anirban;
Oliver, Tiffany Rene;
Halder, Pinku;
Pal, Upamanyu;
Sarkar, Sumantra;
Dutta, Supratim;
Ghosh, Sujay

Publication type:

Article

Metabolic responses to walking in children with Prader‐Willi syndrome on growth hormone replacement therapy.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2513, doi. 10.1002/ajmg.a.40509

By:

Hyde, Adam M.;
Chavoya, Frank A.;
Silveira, Fabiano V.;
Beam, William C.;
Rubin, Daniela A.

Publication type:

Article

Dietary intake in youth with prader‐willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2309, doi. 10.1002/ajmg.a.40491

By:

Mackenzie, Michelle L.;
Triador, Lucila;
Gill, Jasmeena K.;
Pakseresht, Mohammadreza;
Mager, Diana;
Field, Catherine J.;
Haqq, Andrea M.

Publication type:

Article

Spinal manifestations in 12 patients with musculocontractural Ehlers‐Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS‐CHST14).

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2331, doi. 10.1002/ajmg.a.40507

By:

Uehara, Masashi;
Kosho, Tomoki;
Yamamoto, Noriaki;
Takahashi, Hideaki E.;
Shimakura, Taketoshi;
Nakayama, Jun;
Kato, Hiroyuki;
Takahashi, Jun

Publication type:

Article

Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2325, doi. 10.1002/ajmg.a.40505

By:

Létard, Pascaline;
Guimiot, Fabien;
Dupont, Céline;
Rosenblatt, Jonathan;
Delezoide, Anne‐Lise;
Khung‐Savatovsky, Suonavy

Publication type:

Article

Intrafamilial clinical variability in four families with incontinentia pigmenti.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2318, doi. 10.1002/ajmg.a.40497

By:

Mariath, Luiza M.;
Santa Maria, Fernanda D.;
Poziomczyk, Cláudia S.;
Travi, Giovanni M.;
Wachholz, Gabriela E.;
De Souza, Stephanie R.;
Kiszewski, Ana E.;
Schuler‐Faccini, Lavínia

Publication type:

Article

A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2479, doi. 10.1002/ajmg.a.40496

By:

Rodríguez‐García, María Elena;
Cotrina‐Vinagre, Francisco Javier;
Cruz‐Rojo, Jaime;
Garzón‐Lorenzo, Lucía;
Carnicero‐Rodríguez, Patricia;
Pozo, Jaime Sánchez‐Del;
Martínez‐Azorín, Francisco

Publication type:

Article

A novel ASPH variant extends the phenotype of Shawaf‐Traboulsi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2494, doi. 10.1002/ajmg.a.40508

By:

Abarca Barriga, Hugo H.;
Caballero, Nathaly;
Trubnykova, Milana;
Castro‐Mujica, María del Carmen;
La Serna‐Infantes, Jorge E.;
Vásquez, Flor;
Hennekam, Raoul C.

Publication type:

Article

Mutations in WDR4 as a new cause of Galloway–Mowat syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2460, doi. 10.1002/ajmg.a.40489

By:

Braun, Daniela A.;
Shril, Shirlee;
Sinha, Aditi;
Schneider, Ronen;
Tan, Weizhen;
Ashraf, Shazia;
Hermle, Tobias;
Jobst‐Schwan, Tilman;
Widmeier, Eugen;
Majmundar, Amar J.;
Daga, Ankana;
Warejko, Jillian K.;
Nakayama, Makiko;
Schapiro, David;
Chen, Jing;
Airik, Merlin;
Rao, Jia;
Schmidt, Johanna Magdalena;
Hoogstraten, Charlotte A.;
Hugo, Hannah

Publication type:

Article

Characterization of a severe case of PIK3CA‐related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2301, doi. 10.1002/ajmg.a.40487

By:

Piacitelli, Andrew M.;
Jensen, Dana M.;
Brandling‐Bennett, Heather;
Gray, Megan Mariner;
Batra, Maneesh;
Gust, Juliane;
Thaker, Ameet;
Paschal, Catherine;
Tsuchiya, Karen;
Pritchard, Colin C.;
Perkins, Jonathan;
Mirzaa, Ghayda M.;
Bennett, James T.

Publication type:

Article

The role of obesity in the fatal outcome of Schaaf–Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2456, doi. 10.1002/ajmg.a.40486

By:

Kleinendorst, Lotte;
Pi Castán, Graciela;
Caro‐Llopis, Alfonso;
Boon, Elles M. J.;
van Haelst, Mieke M.

Publication type:

Article

Basan gets a new fingerprint: Mutations in the skin‐specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2451, doi. 10.1002/ajmg.a.40485

By:

Valentin, Monica N.;
Solomon, Benjamin D.;
Richard, Gabriele;
Ferreira, Carlos R.;
Kirkorian, Anna Yasmine

Publication type:

Article

Warsaw breakage syndrome: Further clinical and genetic delineation.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2404, doi. 10.1002/ajmg.a.40482

By:

Alkhunaizi, Ebba;
Shaheen, Ranad;
Bharti, Sanjay Kumar;
Joseph‐George, Ann M.;
Chong, Karen;
Abdel‐Salam, Ghada M. H.;
Alowain, Mohammed;
Blaser, Susan I.;
Papsin, Blake C.;
Butt, Mohammed;
Hashem, Mais;
Martin, Nicole;
Godoy, Ruth;
Brosh, Robert M.;
Alkuraya, Fowzan S.;
Chitayat, David

Publication type:

Article

The characteristics of temper outbursts in Prader–Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2292, doi. 10.1002/ajmg.a.40480

By:

Rice, Lauren J.;
Woodcock, Kate;
Einfeld, Stewart L.

Publication type:

Article

Phenotypic and molecular insights into PQBP1‐related intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2446, doi. 10.1002/ajmg.a.40479

By:

Abdel‐Salam, Ghada M. H.;
Miyake, Noriko;
Abdel‐Hamid, Mohamed S.;
Sayed, Inas S. M.;
Gadelhak, Mohamed I.;
Ismail, Samira I.;
Aglan, Mona S.;
Afifi, Hanan H.;
Temtamy, Samia A.;
Matsumoto, Naomichi

Publication type:

Article

A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2395, doi. 10.1002/ajmg.a.40478

By:

Kashevarova, Anna A.;
Nazarenko, Lyudmila P.;
Skryabin, Nikolay A.;
Nikitina, Tatiana V.;
Vasilyev, Stanislav A.;
Tolmacheva, Ekaterina N.;
Lopatkina, Mariya E.;
Salyukova, Olga A.;
Chechetkina, Nataliya N.;
Vorotelyak, Ekaterina A.;
Kalabusheva, Ekaterina P.;
Fishman, Veniamin S.;
Kzhyshkowska, Julia;
Graziano, Claudio;
Magini, Pamela;
Romeo, Giovanni;
Lebedev, Igor N.

Publication type:

Article

Behavioral and psychological features in girls and women with triple‐X syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2284, doi. 10.1002/ajmg.a.40477

By:

Freilinger, Petra;
Kliegel, David;
Hänig, Susann;
Oehl‐Jaschkowitz, Barbara;
Henn, Wolfram;
Meyer, Jobst

Publication type:

Article

Copy number variations in a population with prune belly syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2276, doi. 10.1002/ajmg.a.40476

By:

Iqbal, Nida S.;
Jascur, Thomas A.;
Harrison, Steven;
Chen, Catherine;
Arevalo, Michelle K.;
Wong, Daniel;
Sanchez, Emma;
Grimsby, Gwen;
Wilson, Kathleen;
Baker, Linda A.

Publication type:

Article

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2259, doi. 10.1002/ajmg.a.40472

By:

Hemati, Parisa;
Revah‐Politi, Anya;
Bassan, Haim;
Petrovski, Slavé;
Bilancia, Colleen G.;
Ramsey, Keri;
Griffin, Nicole G.;
Bier, Louise;
Cho, Megan T.;
Rosello, Monica;
Lynch, Sally Ann;
Colombo, Sophie;
Weber, Astrid;
Haug, Marte;
Heinzen, Erin L.;
Sands, Tristan T.;
Narayanan, Vinodh;
Primiano, Michelle;
Aggarwal, Vimla S.;
Millan, Francisca

Publication type:

Article

First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2250, doi. 10.1002/ajmg.a.40471

By:

Mannino, Elizabeth A.;
Miyawaki, Hanae;
Santen, Gijs;
Schrier Vergano, Samantha A.

Publication type:

Article

Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2435, doi. 10.1002/ajmg.a.40470

By:

Jones, Kelly L.;
McNamara, Erin A.;
Longoni, Mauro;
Miller, Danny E.;
Rohanizadegan, Mersedeh;
Newman, Laura A.;
Hayes, Frances;
Levitsky, Lynne L.;
Herrington, Betty L.;
Lin, Angela E.

Publication type:

Article

Risk of hepatic neoplasms in Wolf–Hirschhorn syndrome (4p‐): Four new cases and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2389, doi. 10.1002/ajmg.a.40469

By:

Battaglia, Agatino;
Calhoun, Amy R.U.L.;
Lortz, Amanda;
Carey, John C.

Publication type:

Article

A 23‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2382, doi. 10.1002/ajmg.a.40431

By:

Midro, Alina T.;
Stasiewicz‐Jarocka, Beata;
Borys, Jan;
Kozłowski, Kazimierz;
Skotnicka, Bożena;
Tarasów, Eugeniusz;
Hubert, Ewa;
Konstantynowicz, Jerzy;
Panasiuk, Barbara;
Rydzanicz, Małgorzata;
Pollak, Agnieszka;
Stawiński, Piotr;
Skowroński, Rafał;
Płoski, Rafał

Publication type:

Article

LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2430, doi. 10.1002/ajmg.a.40430

By:

Majer, Filip;
Piherova, Lenka;
Reboun, Martin;
Stara, Veronika;
Pelak, Ondrej;
Norambuena, Patricia;
Stranecky, Viktor;
Krebsova, Alice;
Vlaskova, Hana;
Dvorakova, Lenka;
Kmoch, Stanislav;
Kalina, Tomas;
Kubanek, Milos;
Sikora, Jakub

Publication type:

Article

A de novo in‐frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2425, doi. 10.1002/ajmg.a.40429

By:

Bozarth, Xiuhua;
Foss, Kimberly;
Mefford, Heather C.

Publication type:

Article

Congenital lumbar hernia–A feature of diabetic embryopathy?

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2243, doi. 10.1002/ajmg.a.40381

By:

Stevens, Cathy A.;
Hogue, Jacob S.;
Hopkin, Robert J.;
Lombardo, Rachel C.;
Schrier Vergano, Samantha A.

Publication type:

Article

Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2237, doi. 10.1002/ajmg.a.40377

By:

Legare, Janet M.;
Modaff, Peggy;
Strom, Samuel P.;
Pauli, Richard M.;
Bartlett, Heather L.

Publication type:

Article

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2470, doi. 10.1002/ajmg.a.40357

By:

Assoum, Mirna;
Lines, Matthew A.;
Elpeleg, Orly;
Darmency, Véronique;
Whiting, Sharon;
Edvardson, Simon;
Devinsky, Orrin;
Heinzen, Erin;
Hernan, Rebecca Rose;
Antignac, Corinne;
Deleuze, Jean‐François;
Des Portes, Vincent;
Bertholet‐Thomas, Aurélie;
Belot, Alexandre;
Geller, Eric;
Lemesle, Martine;
Duffourd, Yannis;
Thauvin‐Robinet, Christel;
Thevenon, Julien;
Chung, Wendy

Publication type:

Article

Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2466, doi. 10.1002/ajmg.a.40354

By:

Sakaguchi, Yuri;
Uehara, Tomoko;
Suzuki, Hisato;
Sakamoto, Yoshiaki;
Fujiwara, Mineko;
Kosaki, Kenjiro;
Takenouchi, Toshiki

Publication type:

Article

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2523, doi. 10.1002/ajmg.a.40349

By:

McDonell, Laura M.;
Leung, Gordon Ka‐Chun;
Daoud, Hussein;
Ip, Janice;
Chim, Stella;
Luk, Ho Ming;
Lan, Lawrence;
Boycott, Kym M.;
Chung, Brian Hon‐Yin

Publication type:

Article

Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2375, doi. 10.1002/ajmg.a.40348

By:

Roosenboom, Jasmien;
Hermans, Robert;
Lammens, Frederik;
Samain, Jean Louis;
Devriendt, Koen;
Vander Poorten, Vincent;
Hellings, Peter W.;
Jorissen, Mark;
Peeters, Hilde;
Claes, Peter;
Hens, Greet

Publication type:

Article

Heterozygous WNT1 variant causing a variable bone phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2419, doi. 10.1002/ajmg.a.40347

By:

Alhamdi, Shatha;
Lee, Yi‐Chien;
Chowdhury, Shimul;
Byers, Peter H.;
Gottschalk, Michael;
Taft, Ryan J.;
Joeng, Kyu Sang;
Lee, Brendan H.;
Bird, Lynne M.

Publication type:

Article

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290‐300.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2522, doi. 10.1002/ajmg.a.38846

By:

Clarke, CM;
Fok, VT;
Gustafson, JA;
Smyth, MD;
Timms, AE;
Frazar, CD;
Smith, JD;
Birgfeld, CB;
Lee, A;
Ellenbogen, RG;
Gruss, JS;
Hopper, RA;
Cunningham, ML

Publication type:

Article

Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2517, doi. 10.1002/ajmg.a.38631

By:

Blaesius, Kathrin;
Abbasi, Ansar A.;
Tahir, Tufail H.;
Tietze, Anna;
Picker‐Minh, Sylvie;
Ali, Ghazanfar;
Farooq, Sundas;
Hu, Hao;
Latif, Zahid;
Khan, Muhammad N.;
Kaindl, Angela

Publication type:

Article

Higher adaptive functioning and lower rate of psychotic comorbidity in married versus unmarried individuals with 22q11.2 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2365, doi. 10.1002/ajmg.a.38555

By:

Mosheva, Mariela;
Eyal, Stav;
Weisman, Omri;
Gilad, Reut;
Fishman, Yael;
Weinberger, Ronnie;
Weizman, Abraham;
Gothelf, Doron

Publication type:

Article

Publication schedule for 2018.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2232, doi. 10.1002/ajmg.a.38452
Publication type:: Article