Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 9

Results: 29

A case of LSS‐associated congenital nuclear cataract with hypotrichosis and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2398, doi. 10.1002/ajmg.a.63355

By:

Guo, Dongwei;
Zhang, Qingjiong

Publication type:

Article

Correction to "A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature".

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2454, doi. 10.1002/ajmg.a.63352
Publication type:: Article

15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2392, doi. 10.1002/ajmg.a.63350

By:

Sivakumaran, Theru A.;
Grebe, Theresa A.

Publication type:

Article

Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2451, doi. 10.1002/ajmg.a.63347

By:

Thys, Liene;
Beysen, Diane;
Jansen, Anna;
Janssens, Katrien;
Meuwissen, Marije

Publication type:

Article

Associated anomalies in Pierre Robin sequence.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2312, doi. 10.1002/ajmg.a.63344

By:

Stoll, Claude;
Alembick, Y.;
Roth, M. P.

Publication type:

Article

Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2354, doi. 10.1002/ajmg.a.63342

By:

Almenabawy, Nihal;
Ramadan, Manal;
Kamel, Mona;
Mahmoud, Iman G.;
Amer, Fawzia;
Shaheen, Yara;
Elnaggar, Walaa;
Selim, Laila

Publication type:

Article

Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2428, doi. 10.1002/ajmg.a.63340

By:

Kárteszi, Judit;
Ziegler, Alban;
Tihanyi, Mariann;
Elmont, Beatrix;
Zhang, Yuebo;
Patócs, Barbara;
Molnár, Mária Judit;
Méhes, Gábor;
Wells, Kirsty;
Jakus, Rita;
Bessenyei, Beáta;
Ranatunga, Wasantha;
Morava, Éva

Publication type:

Article

Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2329, doi. 10.1002/ajmg.a.63339

By:

El Dessouki, Dina;
Amr, Khalda;
Kholoussi, Naglaa;
Rady, Hanaa M.;
Temtamy, Samia Ali;
Abdou, Manal M. S.;
Aglan, Mona

Publication type:

Article

A nonsense variant in the N‐terminal acetyltransferase NAA30 may be associated with global developmental delay and tracheal cleft.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2402, doi. 10.1002/ajmg.a.63338

By:

Varland, Sylvia;
Brønstad, Kirsten Marie;
Skinner, Stephanie J.;
Arnesen, Thomas

Publication type:

Article

Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2376, doi. 10.1002/ajmg.a.63322

By:

Khan, Sheraz;
Focșa, Ina Ofelia;
Budișteanu, Magdalena;
Stoica, Cristina;
Nedelea, Florina;
Bohîlțea, Laurențiu;
Caba, Lavinia;
Butnariu, Lăcrămioara;
Pânzaru, Monica;
Rusu, Cristina;
Jurcă, Claudia;
Chirita‐Emandi, Adela;
Bănescu, Claudia;
Abbas, Wasim;
Sadeghpour, Azita;
Baig, Shahid Mahmood;
Bălgrădean, Mihaela;
Davis, Erica E.

Publication type:

Article

Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2346, doi. 10.1002/ajmg.a.63334

By:

Bouman, Arianne;
Bouwmeester, Romy N.;
van Vlimmeren, Leo A.;
Burger, Pauline;
Mandel, Jean‐Louis;
de Vries, Bert B. A.;
de Kleuver, Marinus;
Klein, Willemijn M.;
Geelen, Joyce M.;
Koolen, David A.

Publication type:

Article

Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2433, doi. 10.1002/ajmg.a.63331

By:

Miyake, Christina Y.;
Ehsan, Saad A.;
Zhang, Lilei;
Mackenzie, Samuel J.;
Azamian, Mahshid S.;
Scott, Daryl A.;
Hernandez‐Garcia, Andres;
Lalani, Seema R.

Publication type:

Article

An exploratory study of plasma ceramides in comorbidities in Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2300, doi. 10.1002/ajmg.a.63325

By:

Worley, Gordon;
Byeon, Seul Kee;
Smith, P. Brian;
Hart, Sarah J.;
Young, Sarah P.;
Pandey, Akhilesh;
Kishnani, Priya S.

Publication type:

Article

A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2267, doi. 10.1002/ajmg.a.63323

By:

Rork, W. Conor;
Hertz, Alyssa G.;
Wiese, Andrew D.;
Kostick, Kristin M.;
Nguyen, Dianne;
Schneider, Sophie C.;
Shepherd, Whitney S.;
Cho, Hannah;
Lee, Brendan;
Sutton, V. Reid;
Nagamani, Sandesh CS;
Rauch, Frank;
Glorieux, Francis;
Retrouvey, Jean‐Marc;
Lee, Janice;
Esposito, Paul;
Wallace, Maegen;
Bober, Michael;
Eyre, David;
Gomez, Danielle

Publication type:

Article

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2274, doi. 10.1002/ajmg.a.63335

By:

Saadi, Abdelkrim;
Navarro, Claire;
Ozalp, Ozge;
Lourenco, Charles Marques;
Fayek, Racha;
Da Silva, Nathalie;
Chaouch, Athmane;
Benahmed, Meryem;
Kubisch, Christian;
Munnich, Arnold;
Lévy, Nicolas;
Roll, Patrice;
Pacha, Lamia Ali;
Chaouch, Malika;
Lessel, Davor;
De Sandre‐Giovannoli, Annachiara

Publication type:

Article

Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2422, doi. 10.1002/ajmg.a.63321

By:

Corona‐Rivera, Jorge Román;
Barrios‐Prieto, Ernestro;
Rivera‐Ramírez, Berenice;
Sánchez‐Uribe, Enndy Hollyver;
Cortés‐Pastrana, Rocío Carolina;
Aguilera, Cristhian Ernesto Ramírez;
de Anda‐Camacho, Roberto Gerardo;
Peña‐Padilla, Christian;
Bobadilla‐Morales, Lucina;
Corona‐Rivera, Alfredo

Publication type:

Article

An in‐frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D‐related neurodevelopmental disorder.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2416, doi. 10.1002/ajmg.a.63307

By:

Alhajaj, Ghadd;
Lacroix, Caroline;
Trakadis, Yannis;
Garfinkle, Jarred;
Srour, Myriam

Publication type:

Article

Exploring collaboration models between geneticists and intensivists for implementing rapid genome sequencing in critical care settings.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2290, doi. 10.1002/ajmg.a.63318

By:

Fishler, Kristen P.;
Steber, Hannah S.;
Brunelli, Luca;
Shope, Ronald J.

Publication type:

Article

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2440, doi. 10.1002/ajmg.a.63316

By:

Remmelzwaal, P. Christian;
Verhagen, Martijn V.;
Jongbloed, Jan D. H.;
van den Akker, Peter C.;
Veenstra‐Knol, Hermine E.;
Hitzert, Marrit M.

Publication type:

Article

Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2324, doi. 10.1002/ajmg.a.63314

By:

Scheuerle, Angela E.;
Ni, Min;
Ahmad, Aaliya A.;
Timmons, Charles F.;
Rakheja, Dinesh;
Gordon, Erin E.;
Boothe, Megan

Publication type:

Article

Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2364, doi. 10.1002/ajmg.a.63311

By:

Kierzkowska, Ola;
Sarino, Kathleen;
Carter, Drake;
Guo, Lily;
Marchi, Elaine;
Voronova, Anastassia;
Lyon, Gholson J.

Publication type:

Article

A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2446, doi. 10.1002/ajmg.a.63310

By:

Werren, Elizabeth A.;
Srinivasan, Varunvenkat M.;
Gowda, Vykuntaraju K.;
Pandey, Akanksha;
Vaish, Saurabh;
Kabbur, Anusha Raj;
Nandeesh, Bevinahalli N.;
Srivastava, Anshika

Publication type:

Article

Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2411, doi. 10.1002/ajmg.a.63317

By:

Ekure, Ekanem N.;
Musa, Kareem O.;
Ulonnam, Ngozi;
Kruszka, Paul;
Muenke, Maximilian;
Adeyemo, Adebowale A.

Publication type:

Article

Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2337, doi. 10.1002/ajmg.a.63306

By:

Bönnemann, Carsten G.;
Krishnamoorthy, Kalpathy S.;
Johnston, Jennifer J.;
Lee, Mary M.;
Fowler, Darren J.;
Biesecker, Leslie G.;
Holmes, Lewis B.

Publication type:

Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2263, doi. 10.1002/ajmg.a.62827
Publication type:: Article

Polygenic Scores Fall Short on Diversity.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2261, doi. 10.1002/ajmg.a.62826
Publication type:: Article

Health Insurance Denials Limit Access to Genetic Testing.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2260, doi. 10.1002/ajmg.a.62825
Publication type:: Article

Publication schedule for 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2259, doi. 10.1002/ajmg.a.62824
Publication type:: Article

Table of Contents, Volume 191A, Number 9, September 2023.

Published in:: American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2255, doi. 10.1002/ajmg.a.62823
Publication type:: Article