Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 11

Results: 20

Musculoskeletal phenotypes in 3q29 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2749, doi. 10.1002/ajmg.a.63384

By:

Pollak, Rebecca M.;
Tilmon, Jacob C.;
Murphy, Melissa M.;
Gambello, Michael J.;
Sanchez Russo, Rossana;
Dormans, John P.;
Mulle, Jennifer G.

Publication type:

Article

Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2693, doi. 10.1002/ajmg.a.63382

By:

Galarreta, Carolina I.;
Hoyt, Erin;
Forero, Laura;
Curry, Cynthia J.;
Bird, Lynne M.

Publication type:

Article

Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2716, doi. 10.1002/ajmg.a.63379

By:

Shillington, Amelle;
Zappia, Katherine J.;
White, Lori;
Fosdick, Cara;
Erickson, Craig A.;
Lamy, Martine;
Dominick, Kelli C.

Publication type:

Article

Effectiveness of cardiac palliative surgery for trisomy 18 patients with increased pulmonary blood flow.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2703, doi. 10.1002/ajmg.a.63401

By:

Takai, Akari;
Yamagishi, Masaaki;
Ikeda, Kazuyuki;
Sugimoto, Atsuya;
Ichise, Eisuke;
Maeda, Yoshinobu;
Teramukai, Satoshi;
Hasegawa, Tatsuji;
Oda, Shinichiro;
Iehara, Tomoko

Publication type:

Article

Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2723, doi. 10.1002/ajmg.a.63390

By:

Taylor, Alan;
Kashyape, Pawan S.;
Jain, Ruchi;
El Naofal, Maha;
Tayoun, Ahmad Abou

Publication type:

Article

Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2743, doi. 10.1002/ajmg.a.63389

By:

Gates, Ryan W.;
Webb, Bryn D.;
Stevenson, David A.;
Jabs, Ethylin Wang;
DeFilippo, Colette;
Ruzhnikov, Maura R. Z.;
Tise, Christina G.

Publication type:

Article

Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2783, doi. 10.1002/ajmg.a.63395

By:

Crincoli, Emanuele;
Leoni, Chiara;
Viscogliosi, Germana;
Onesimo, Roberta;
Mattei, Roberta;
Tartaglia, Marco;
Catania, Fiammetta;
Rizzo, Stanislao;
Zampino, Giuseppe;
Salerni, Annabella

Publication type:

Article

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2728, doi. 10.1002/ajmg.a.63394

By:

Viora‐Dupont, E.;
Denommé‐Pichon, A.;
Chevarin, M.;
Patat, O.;
Willems, M.;
Bourgon, N.;
Bruel, A.;
Aubert‐Mucca, M.;
Galinier, M.;
Itier, R.;
Decramer, S.;
Piton, A.;
Gerard, B.;
Billon, C.;
Jeunemaitre, X.;
Duffourd, Y.;
Callier, P.;
Thauvin, C.;
Philippe, C.;
Faivre, L.

Publication type:

Article

Impact of tracheostomies on the long‐term survival of patients with trisomy 13 syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2736, doi. 10.1002/ajmg.a.63393

By:

Tamaki, Shoko;
Iwatani, Sota;
Hagimoto, Shinji;
Izumi, Ayako;
Ikuta, Toshihiko;
Takeoka, Emiko;
Matsui, Sachiko;
Mimura, Hitomi;
Minamikawa, Shogo;
Nakagishi, Yasuo;
Yoshimoto, Seiji;
Nakao, Hideto

Publication type:

Article

A homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2673, doi. 10.1002/ajmg.a.63375

By:

El Fizazi, Khawla;
Bouramtane, Abdelhamid;
Abbassi, Meriame;
El Asri, Yasser Ali;
Askander, Omar;
El Fahime, Mustapha;
Ouldim, Karim;
Ridal, Mohammed;
Bouguenouch, Laila

Publication type:

Article

Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2711, doi. 10.1002/ajmg.a.63369

By:

McKee‐Muir, Olivia;
Dyack, Sarah;
Taillon, Monique;
Brock, Jo‐Ann;
Sheriko, Jordan

Publication type:

Article

Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2757, doi. 10.1002/ajmg.a.63363

By:

Beaman, M. Makenzie;
Guidugli, Lucia;
Hammer, Monia;
Barrows, Chelsea;
Gregor, Anne;
Lee, Sangmoon;
Deak, Kristen L.;
McDonald, Marie T.;
Jensen, Courtney;
Zaki, Maha S.;
Masri, Amira T.;
Hobbs, Charlotte A.;
Gleeson, Joseph G.;
Cohen, Jennifer L.

Publication type:

Article

Pathogenicity analysis and splicing rescue of a classical splice site variant (c.1343+1G>T) of CNOT1 gene associated with neurodevelopmental disorders.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2775, doi. 10.1002/ajmg.a.63360

By:

Dong, Yan;
Li, Weiran;
Meng, Jing;
Wang, Ping;
Sun, Mei;
Zhou, Feiyu;
Li, Dong;
Shu, Jianbo;
Cai, Chunquan

Publication type:

Article

Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice‐site mutation.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2768, doi. 10.1002/ajmg.a.63359

By:

Freund, Ofek;
Elsana, Baker;
Agam, Nadav;
Jean, Matan M.;
Safran, Amit;
Poleg, Tomer;
Roguin, Nir;
Gradstein, Libe;
Tsumi, Erez;
Birk, Ohad S.

Publication type:

Article

An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2679, doi. 10.1002/ajmg.a.63356

By:

Rosenberg, Amanda;
Tian, Cuixia;
He, Hua;
Ulm, Elizabeth;
Collins Ruff, Kathleen;
B. Nagaraj, Chinmayee

Publication type:

Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2672, doi. 10.1002/ajmg.a.62837
Publication type:: Article

The Willingness to Participate in Genetic Studies may be Genetic.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2670, doi. 10.1002/ajmg.a.62836
Publication type:: Article

Topical Gene Therapy Restores Vision in Ocular Dystrophic Epidermolysis Bullosa.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2669, doi. 10.1002/ajmg.a.62835
Publication type:: Article

Publication schedule for 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2668, doi. 10.1002/ajmg.a.62834
Publication type:: Article

Table of Contents, Volume 191A, Number 11, November 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2665, doi. 10.1002/ajmg.a.62833
Publication type:: Article