Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 6

Results: 31

Oligonucleotides Hold Promise as a Therapy for Friedreich's Ataxia: Friedreich's ataxia currently is incurable, but synthetic antisense oligonucleotides have demonstrated promising results in increasing frataxin gene expression and restoring it to normal levels

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1282, doi. 10.1002/ajmg.a.38850
Publication type:: Article

Comprehensive Genetic Screening Recommended for Nonsyndromic Cleft Lip/Palate: Even in the absence of any signs of a syndrome, patients with cleft lip/palate may still carry a mutation in a gene linked to a syndrome and should receive comprehensive genetic testing

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1280, doi. 10.1002/ajmg.a.38849
Publication type:: Article

Cover Image, Volume 176A, Number 6, June 2018.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. i, doi. 10.1002/ajmg.a.38848

By:

Ungar, Rachel A.;
Giri, Neelam;
Pao, Maryland;
Khincha, Payal P.;
Zhou, Weiyin;
Alter, Blanche P.;
Savage, Sharon A.

Publication type:

Article

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1398, doi. 10.1002/ajmg.a.38726

By:

Byers, Heather M.;
Chen, Maida;
Gelfand, Andrew S.;
Ong, Bruce;
Jendras, Marisa;
Glass, Ian A.

Publication type:

Article

KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1449, doi. 10.1002/ajmg.a.38724

By:

Behnert, Astrid;
Auber, Bernd;
Steinemann, Doris;
Frühwald, Michael C.;
Huisinga, Carolin;
Hussein, Kais;
Kratz, Christian;
Ripperger, Tim

Publication type:

Article

An assessment of health, social, communication, and daily living skills of adults with Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1389, doi. 10.1002/ajmg.a.38721

By:

Matthews, Theodora J.;
Allain, Dawn C.;
Matthews, Anne L.;
Mitchell, Anna;
Santoro, Stephanie L.;
Cohen, Leslie

Publication type:

Article

The ontogeny of Robin sequence.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1349, doi. 10.1002/ajmg.a.38718

By:

Logjes, Robrecht J. H.;
Breugem, Corstiaan C.;
Van Haaften, Gijs;
Paes, Emma C.;
Sperber, Geoffrey H.;
van den Boogaard, Marie‐José H.;
Farlie, Peter G.

Publication type:

Article

Mutations in SZT2 result in early‐onset epileptic encephalopathy and leukoencephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1443, doi. 10.1002/ajmg.a.38717

By:

Pizzino, Amy;
Whitehead, Matthew;
Sabet Rasekh, Parisa;
Murphy, Jennifer;
Helman, Guy;
Bloom, Miriam;
Evans, Sarah H.;
Murnick, John G.;
Conry, Joan;
Taft, Ryan J.;
Simons, Cas;
Vanderver, Adeline;
Adang, Laura A.

Publication type:

Article

Delayed peak response of cortisol to insulin tolerance test in patients with Prader–Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1369, doi. 10.1002/ajmg.a.38713

By:

Oto, Yuji;
Matsubara, Keiko;
Ayabe, Tadayuki;
Shiraishi, Masahisa;
Murakami, Nobuyuki;
Ihara, Hiroshi;
Matsubara, Tomoyo;
Nagai, Toshiro

Publication type:

Article

Association of 17q24.2‐q24.3 deletions with recognizable phenotype and short telomeres.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1438, doi. 10.1002/ajmg.a.38711

By:

Hancarova, Miroslava;
Malikova, Marcela;
Kotrova, Michaela;
Drabova, Jana;
Trkova, Marie;
Sedlacek, Zdenek

Publication type:

Article

X‐linked intellectual disability update 2017.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1375, doi. 10.1002/ajmg.a.38710

By:

Neri, Giovanni;
Schwartz, Charles E.;
Lubs, Herbert A.;
Stevenson, Roger E.

Publication type:

Article

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1432, doi. 10.1002/ajmg.a.38706

By:

Ungar, Rachel A.;
Giri, Neelam;
Pao, Maryland;
Khincha, Payal P.;
Zhou, Weiyin;
Alter, Blanche P.;
Savage, Sharon A.

Publication type:

Article

Functional independence of Taiwanese children with Prader–Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1309, doi. 10.1002/ajmg.a.38705

By:

Lee, Chung‐Lin;
Lin, Hsiang‐Yu;
Tsai, Li‐Ping;
Chiu, Huei‐Ching;
Tu, Ru‐Yi;
Huang, You‐Hsin;
Chien, Yin‐Hsiu;
Lee, Ni‐Chung;
Niu, Dau‐Ming;
Chao, Mei‐Chyn;
Tsai, Fuu‐Jen;
Chou, Yen‐Yin;
Chuang, Chih‐Kuang;
Lin, Shuan‐Pei

Publication type:

Article

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1427, doi. 10.1002/ajmg.a.38704

By:

Paganini, Leda;
Pesenti, Chiara;
Milani, Donatella;
Fontana, Laura;
Motta, Silvia;
Sirchia, Silvia Maria;
Scuvera, Giulietta;
Marchisio, Paola;
Esposito, Susanna;
Cinnante, Claudia Maria;
Tabano, Silvia Maria;
Miozzo, Monica Rosa

Publication type:

Article

Three patients with DeSanto‐Shinawi syndrome: Further phenotypic delineation.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1335, doi. 10.1002/ajmg.a.38703

By:

Uehara, Tomoko;
Ishige, Takashi;
Hattori, Shigeto;
Yoshihashi, Hiroshi;
Funato, Michinori;
Yamaguchi, Yu;
Takenouchi, Toshiki;
Kosaki, Kenjiro

Publication type:

Article

Arno G. Motulsky, 1923–2018, Luck and Service.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1285, doi. 10.1002/ajmg.a.38702

By:

Opitz, John M.

Publication type:

Article

A German‐Jewish refugee in Vichy France 1939–1941. Arno Motulsky's memoir of life in the internment camps at St. Cyprien and Gurs.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1289, doi. 10.1002/ajmg.a.38701

By:

Motulsky, Arno G.

Publication type:

Article

Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1423, doi. 10.1002/ajmg.a.38700

By:

Upadia, Jariya;
Gonzales, Patrick R.;
Robin, Nathaniel H.

Publication type:

Article

The phenotypic spectrum of Xia‐Gibbs syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1315, doi. 10.1002/ajmg.a.38699

By:

Jiang, Yunyun;
Wangler, Michael F.;
McGuire, Amy L.;
Lupski, James R.;
Posey, Jennifer E.;
Khayat, Michael M.;
Murdock, David R.;
Sanchez‐Pulido, Luis;
Ponting, Chris P.;
Xia, Fan;
Hunter, Jill V.;
Meng, Qingchang;
Murugan, Mullai;
Gibbs, Richard A.

Publication type:

Article

38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1463, doi. 10.1002/ajmg.a.38698

By:

Stevens, Cathy A.;
Krantz, Ian

Publication type:

Article

Choroid plexus hyperplasia and chromosome 9p gains.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1416, doi. 10.1002/ajmg.a.38697

By:

Boxill, Martin;
Becher, Naja;
Sunde, Lone;
Thelle, Thomas

Publication type:

Article

Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long‐term outcome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1411, doi. 10.1002/ajmg.a.38696

By:

Hannah‐Shmouni, Fady;
Cruz, Vivian;
Schulze, Andreas;
Mercimek‐Andrews, Saadet

Publication type:

Article

Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1327, doi. 10.1002/ajmg.a.38694

By:

Prasad, Ankita;
Grocott, Olivia;
Parkin, Kimberly;
Larson, Anna;
Thibert, Ronald L.

Publication type:

Article

Barakat syndrome revisited.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1341, doi. 10.1002/ajmg.a.38693

By:

Barakat, Amin J.;
Raygada, Margarita;
Rennert, Owen M.

Publication type:

Article

FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1304, doi. 10.1002/ajmg.a.38692

By:

Owens, Kailey M.;
Dohany, Lindsay;
Holland, Carol;
DaRe, Jeana;
Mann, Tobias;
Settler, Christina;
Longman, Ryan E.

Publication type:

Article

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1405, doi. 10.1002/ajmg.a.38691

By:

Stattin, Eva‐Lena;
Johansson, Josefin;
Gudmundsson, Sanna;
Ameur, Adam;
Lundberg, Staffan;
Bondeson, Marie‐Louise;
Wilbe, Maria

Publication type:

Article

Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1296, doi. 10.1002/ajmg.a.38688

By:

Zhang, Charles;
Miller, Steven F.;
Roosenboom, Jasmien;
Wehby, George L.;
Moreno Uribe, Lina M.;
Hecht, Jacqueline T.;
Deleyiannis, Frederic W. B.;
Christensen, Kaare;
Marazita, Mary L.;
Weinberg, Seth M.

Publication type:

Article

Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1455, doi. 10.1002/ajmg.a.38667

By:

Lorenzo, Melissa;
Stolte‐Dijkstra, Irene;
van Rheenen, Patrick;
Smith, Ronald Garth;
Scheers, Tom;
Walia, Jagdeep S.

Publication type:

Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1283, doi. 10.1002/ajmg.a.38438
Publication type:: Article

Publication schedule for 2018.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1279, doi. 10.1002/ajmg.a.38437
Publication type:: Article

Table of Contents, Volume 176A, Number 6, June 2018.

Published in:: American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1275, doi. 10.1002/ajmg.a.38436
Publication type:: Article