Works matching IS 15524825 AND DT 2025 AND VI 197 AND IP 6

Results: 34

Myotonic Dystrophy and Stress Induced Cardiomyopathy: A Case Series.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64027

By:

Chanda, Anindita;
Gonullu‐Rotman, Damla C.;
Elsadany, Mohammed;
Saucier, Stephanie;
Sobol, Irina;
Alishetti, Shudhanshu;
Wan, Ningxin;
McMahon, Sean R.;
Abdul‐Rahman, Omar A.

Publication type:

Article

Survey of Patients With Sanfilippo Type a (MPS IIIA) Disease Diagnosed by the MPS Brazil Network.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64026

By:

Montenegro, Yorran Hardman Araújo;
Trapp, Franciele Barbosa;
dos Santos‐Lopes, Simone Silva;
da Silva, Karyme Beatrice Lourenço;
Baldo, Guilherme;
Giugliani, Roberto;
de Oliveira Poswar, Fabiano

Publication type:

Article

Single‐Gene Deletion of FGF3 in a Patient With Features of 11q13 Microdeletion Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64025

By:

Rahi, Hamed;
Dickson, Patricia I.;
Toler, Tomi L.;
Corliss, Meagan M.;
Cao, Yang

Publication type:

Article

Clinical and Molecular Genetic Analyses of a Girl With Isolated Nephrogenic Diabetes Insipidus due to Contiguous Gene Deletion Involving AVPR2 and L1CAM.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64024

By:

Saito, Shoma;
Suzuki, Shigeru;
Izumi, Kengo;
Kamiyama, Takumi;
Saito, Kosuke;
Yamamura, Hinako;
Kokumai, Takahide;
Furuya, Akiko;
Taketazu, Genya;
Makita, Yoshio;
Niida, Yo;
Takahashi, Satoru

Publication type:

Article

Self‐Reported Access to Specialized Genetics Providers Among Families of Young Children With Birth Defects in Texas.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64022

By:

Betancourt, Dayana;
Shumate, Charles;
Yantz, Caitlyn;
Gandhi, Henal;
Drummond‐Borg, Margaret;
Kubenka, Christina;
Singletary, Claire;
Riconda, Daniel;
Agopian, A. J.

Publication type:

Article

Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phenotype of Children With Sex Chromosome Trisomy.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64021

By:

van Rijn, Sophie;
Kuiper, Kimberly;
Swaab, Hanna

Publication type:

Article

Burosumab Treatment in a Girl With Cutaneous Skeletal Hypophosphatemia Syndrome: 2‐Year Follow‐Up.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64020

By:

del Pino, Mariana;
Viterbo, Gisela;
Valentini, María Agustina;
Salvatierra, Roberto;
Belleri, Florencia;
La Forgia, Pablo;
Abbate, Silvina;
Chinton, Josefina;
Lazzati, Juan Manuel;
Maderna, Osmar;
Cervini, Andrea Bettina;
Fano, Virginia

Publication type:

Article

Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64019

By:

Gaignard, Pauline;
Becker, Pierre‐Hadrien;
Dessein, Anne‐Frederique;
Lebigot, Elise;
Slama, Abdelhamid;
Mention, Karine;
Ghoumid, Jamal

Publication type:

Article

KLK11‐Related Disorder of Cornification Presenting as Inflammatory Skin Disease: A Familial Case Report and Literature Review.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64018

By:

Eiumtrakul, Wongsathorn;
Wittayakornrerk, Sanchawan;
Wongkittichote, Parith;
Nujaroen, Saisuda;
Pakhathirathien, Pattima;
Wattanasirichaigoon, Duangrurdee

Publication type:

Article

Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64017

By:

Li, Guohua;
Du, Mengyang;
Deng, Xujing;
Wang, Shuping;
Zhou, Zhou;
Zhang, Junyu;
Bao, Shihua

Publication type:

Article

Registry‐Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64016

By:

Abegglen, Olivia;
Srikantharupan, Shajanth;
Zotter, Kathrin;
Marcionelli, Giulio;
Ndarugendamwo, Timothée;
Lim, Pei Jin;
Giunta, Cecilia;
Kaufman, Christina;
Rohrbach, Marianne

Publication type:

Article

International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64015

By:

Duis, Jessica;
Agresta, Laura;
Bennett, William E.;
Chambers, Henry;
Clarke, Antonia;
Fairhurst, Charlie;
Hoover‐Fong, Julie;
Murphy, Feilim;
Noritz, Garey;
Schwantes, Scott;
Shreve, Michael;
Thusang, Kabelo;
Weidemann, Darcy;
Beale, Rebecca;
Mehta, Aditi;
Wilhelmsen, Andrew;
Summerfield, Nuala

Publication type:

Article

Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium‐Dependent Multivitamin Transporter Deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64014

By:

Walimbe, Ameya S.;
Waskow, Emily;
Mackay, Laura;
Miller, Marcus;
Gijavanekar, Charul;
Difalco, Charles R.;
Elsea, Sarah H.;
Scaglia, Fernando

Publication type:

Article

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64007

By:

Galli, Jessica;
Loi, Erika;
Zanardini, Federica;
Baldoni, Giovanna;
Novara, Francesca;
Panigada, Serena;
Ciccone, Roberto;
Cutrì, Maria Rosa;
Bertoletti, Alice;
Pinelli, Lorenzo;
Fazzi, Elisa

Publication type:

Article

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64011

By:

Watson, Deborah;
Mentch, Frank;
Billings, Jonathan;
Ostberg, Kayleigh;
March, Michael E.;
Kalish, Jennifer M.;
Li, Dong;
Cannon, India;
Guay‐Woodford, Lisa M.;
Hartung, Erum;
Strong, Alanna

Publication type:

Article

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64010

By:

Dominicis, Angela De;
Sparascio, Francesca Piceci;
Stregapede, Fabrizia;
Terracciano, Alessandra;
Verrigni, Daniela;
Lepri, Francesca Romana;
Cetola, Sarah;
Dentici, Maria Lisa;
Vigevano, Federico;
Novelli, Antonio;
Specchio, Nicola;
Trivisano, Marina;
Digilio, Maria Cristina

Publication type:

Article

Natural History of NAA15‐Related Neurodevelopmental Disorder Through Adolescence.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64009

By:

Makwana, Rikhil;
Christ, Carolina;
Patel, Rahi;
Marchi, Elaine;
Harpell, Randie;
Lyon, Gholson J.

Publication type:

Article

Identification of Novel Variants in the NHS in Four Turkish Patients With Nance–Horan Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64008

By:

Alavanda, Ceren;
Arslan Ateş, Esra;
Demir, Şenol;
Polat, Hamza;
Hanoğlu, Onur;
Arman, Ahmet;
Geçkinli, Bilgen Bilge

Publication type:

Article

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64013

By:

Hodgson, A. K. O.;
Baxandall, L.;
Aiyedun, D.;
Li, A.;
Au, P. Y. B.;
Bain, J. M.;
Gillentine, M. A.;
Goel, H.;
Kline, A. D.;
Ricupero, C. L.;
Sánchez‐Carpintero, R.;
Seward, E. P.;
Sidlow, R.;
Wilson, S. A.;
Balasubramanian, M.

Publication type:

Article

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64006

By:

Werren, Elizabeth A.;
Kalsner, Louisa;
Ewald, Jessica M.;
Peracchio, Michael;
King, Cameron;
Vats, Purva;
Audano, Peter A.;
Robinson, Peter N.;
Adams, Mark D.;
Kelly, Melissa A.;
Matson, Adam P.

Publication type:

Article

Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2‐Associated Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64005

By:

Ukita, Nao;
Ogawa, Takuya;
Yamada, Mamiko;
Takeuchi, Chisen;
Kosaki, Kenjiro;
Moriyama, Keiji

Publication type:

Article

A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64004

By:

Tan, Turkan Turkut;
Dogan, Yusuf Can;
Yilmaz, Zehra Burcu;
Avci Durmusalioglu, Enise;
Oguz, Ezgi;
Ayyildiz, Durdugul Emecen;
Isik, Esra;
Aydogdu, Sema;
Cogulu, Ozgur;
Atik, Tahir

Publication type:

Article

Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64003

By:

Dortenzio, Victoria;
Barbaric, Lidija;
Rosenfeld, Elizabeth;
Dechene, Elizabeth T.;
Gilbert, Melissa A.;
Dulik, Matthew C.;
Rippert, Alyssa L.;
Izumi, Kosuke

Publication type:

Article

MYRF Variants in Patients With 46,XY Differences/Disorders of Sex Development and Literature Review.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64002

By:

Zhang, Wei;
Wang, Xi;
Mao, Jiangfeng;
Cao, Yaqing;
Zhang, Xiaoxia;
Nie, Min;
Wu, Xueyan

Publication type:

Article

Research Priorities of Individuals and Families With Sex Chromosome Aneuploidies.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.63998

By:

Carl, Alexandra;
Bothwell, Samantha;
Farah, Fathia;
Swenson, Karli;
Hong, David;
Prakash, Siddharth;
Strang, John;
Tartaglia, Nicole;
Raznahan, Armin;
Ross, Judith;
Rogol, Alan D.;
Dawczyk, Anna;
Hong, David S.;
Decker, Gail;
Cover, Ginnie;
Cohen, Lilian L.;
Davis, Shanlee;
Gerken, Steve;
Howell, Susan;
Bamba, Vaneeta

Publication type:

Article

The c.529G>A (p.Ala177Thr) RNASEH2B Gene Pathogenic Variant as a First‐Line Genetic Test for Aicardi‐Goutières Syndrome: A Case Series of Four Moroccan Families.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.63997

By:

Ouhenach, Mouna;
Nada, Amllal;
Lyahyai, Jaber;
Sefiani, Abdelaziz

Publication type:

Article

A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.63996

By:

Chen, Ting‐Yi;
Chen, Yi;
Tang, Lan‐Fang

Publication type:

Article

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams–Beuren Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.63993

By:

Bedeschi, Maria Francesca;
Baldassarri, Annarita;
Villa, Roberta;
Tanzi, Federico;
Salera, Simona;
Lombardo, Vincenza;
Draghi, Alessandro;
O'Sed, Nicole Piazza;
Casazza, Giovanni;
Vecchi, Maurizio;
Fraquelli, Mirella

Publication type:

Article

Presentation and Longer‐Term Outcomes in Mosaic Trisomy 21 Causing Isolated Transient Abnormal Myelopoiesis.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.63979

By:

Mehra, Anna‐Thérèse;
Wojcik, Monica H.

Publication type:

Article

De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.63975

By:

Corriveau, Melina L.;
Korb, Joshua C.;
Michener, Sydney L.;
Owen, Nichole M.;
Wilson, Erica L.;
Kubala, Jamie;
Turner, Alicia;
Takacs, Danielle S.;
Potocki, Lorraine;
Swann, John W.;
Xue, Mingshan;
Dai, Hongzheng;
Chao, Hsiao‐Tuan

Publication type:

Article

Table of Contents, Volume 197A, Number 6, June 2025.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.63751
Publication type:: Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.63749
Publication type:: Article

In Memoriam: John Bruce Beckwith, MD (1933–2025).

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.63748
Publication type:: Article

Broad Exclusion Criteria Increase Rate of Genetic Diagnosis in Neonates.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.63746
Publication type:: Article