Works matching IS 15524825 AND DT 2025 AND VI 197 AND IP 5

Results: 34

Cardiac Involvement and TBCK‐Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.64001

By:

Mastromoro, Gioia;
Guadagnolo, Daniele;
Gianno, Francesca;
Khaleghi Hashemian, Nader;
Terracciano, Alessandra;
Bernardini, Laura;
Giancotti, Antonella;
Novelli, Antonio;
Piacentini, Gerardo;
Di Gioia, Cira;
Pizzuti, Antonio

Publication type:

Article

A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.64000

By:

Zehr, Kara;
Buckley, Morgan;
Owens, Joshua W.;
Vanagunas, Tomas;
Fernandez, Patricia Vega;
Hopkin, Robert J.;
Shillington, Amelle

Publication type:

Article

An Evaluation of the Impact of Genetic Counseling on Adherence to the 2011 American Academy of Pediatrics Health Supervision Guidelines for Children With Down Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63999

By:

Mainville, Brooke;
Flore, Leigh Anne;
Carmany, Erin P.

Publication type:

Article

Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5‐Year Update.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63995

By:

Rayannavar, Arpana;
Billington, Charles J.;
Tryon, Rebecca;
Kaye, Tory;
Gupta, Ashish;
Lund, Troy C.;
Lteif, Aida;
Adriatico, Katherine;
Orchard, Paul J.;
Miller, Bradley S.;
Pillai, Nishitha R.

Publication type:

Article

Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63994

By:

Kalantari, Silvia;
Veraldi, Daniele;
Politano, Davide;
Apicella, Antonia;
Castagnoli, Riccardo;
Foiadelli, Thomas;
D'Abrusco, Fulvio;
Giorgio, Elisa;
Berardinelli, Angela;
Codazzi, Alessia Claudia;
Marseglia, Gianluigi;
Valente, Enza Maria;
Sirchia, Fabio

Publication type:

Article

Diverse Clinical Presentation of RAC1‐Related Intellectual Developmental Disorder.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63991

By:

Upadia, Jariya;
Liu, Jiao;
Bier, Caide;
Chenevert, Madeline;
Li, Yuwen

Publication type:

Article

Genetic Services in Appalachia Conference Series.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63990

By:

Kelly, Kimberly M.;
Dhumal, Trupti;
Scott, Virginia G.;
Falah, Nadia;
Kronk, Rebecca;
Terry, Alissa Bovee;
Graves, Kristi;
Pickarski, Justine;
Au, Margaret

Publication type:

Article

Phenotypic Expansion: Fetus With Cole‐Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63988

By:

Burrill, Natalie;
Teefey, Christina Paidas;
Wright, Renee;
Huynh, Minh‐Huy;
Schindewolf, Erica;
Pilchman, Lisa;
Crane, Haley;
Noyes, Amanda G.;
Roman, Amanda;
Gulersen, Moti;
Moldenhauer, Julie S.

Publication type:

Article

Osteoporosis Caused by Monoallelic Variant of WNT1 Gene in Four Pediatric Patients.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63987

By:

Wang, Qiao;
Liu, Min;
Cao, Bing‐Yan;
Su, Chang;
Meng, Xi;
Ding, Yuan;
Ren, Xiao‐Ya;
Gong, Chun‐Xiu

Publication type:

Article

A Missense Variant in the IKZF2 Gene Identified in a Genetically Undiagnosed Family With Hearing Loss.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63986

By:

Zhang, Teng;
Li, Qiang;
Wang, Hanjun;
Sun, Shuping;
Xu, Hongen

Publication type:

Article

Hajdu–Cheney Syndrome, a Rare Cause of Acro‐Osteolysis and Osteoporosis With Zoledronic Acid Experience.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63985

By:

Buyukyilmaz, Gonul;
Adiguzel, Mehmet;
Gurbuz, Fatih;
Kılıc, Esra

Publication type:

Article

SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63984

By:

Spineli‐Silva, Samira;
Pontes, Larissa Bretanha;
de Leeuw, Nicole;
Correia‐Costa, Gabriela Roldão;
de Wallau, Melissa Bittencourt;
Versiani, Beatriz Ribeiro;
Mazzeu, Juliana Forte;
Boy, Raquel;
Gil‐da‐Silva‐Lopes, Vera Lúcia;
Vieira, Társis Paiva

Publication type:

Article

Three‐Dimensional Gait Analysis of School‐Age Children With Angelman Syndrome: A Case–Control Study.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63983

By:

Narahara, Sho;
Ito, Yuji;
Ito, Tadashi;
Nakamura, Natsuki;
Shiraki, Anna;
Tanemura, Kaori;
Ohno, Atsuko;
Aoki, Yusuke;
Kidokoro, Hiroyuki;
Ishihara, Naoko;
Hattori, Ayako;
Ochi, Nobuhiko;
Natsume, Jun

Publication type:

Article

Adult‐Onset Hypomagnesemia With Secondary Hypocalcemia Caused by a Novel Variant in TRPM6 Gene: A Case Report.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63982

By:

Chen, Yan;
Liang, Jian;
Hu, Yuhua;
Hong, Yunyun;
Liu, Qiang

Publication type:

Article

Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003–2022.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63981

By:

Artal, Jonathan M.;
Randall, Lindsey;
Rubeck, Sabina;
Allyse, Megan;
Michie, Marsha;
Riggan, Kirsten A.;
Meredith, Stephanie;
Skotko, Brian G.

Publication type:

Article

Inpatient Hospitalizations for COVID‐19 Among Patients With Prader–Willi Syndrome: A National Inpatient Sample Analysis.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63980

By:

Luccarelli, James;
Strong, Theresa V.;
Rubin, Emily B.;
McCoy, Thomas H.

Publication type:

Article

Baricitinib Treatment in RNU7‐1‐Associated Aicardi–Goutières Syndrome in a South African Child: A Case Report.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63978

By:

Spracklen, Timothy F.;
Akhalwaya, Shehnaaz;
Ackermann, Sally;
Uggenti, Carolina;
Seabra, Luis;
Crow, Yanick J.;
Webb, Kate

Publication type:

Article

Specialty Care Oases: Utilizing Geographic Information Systems to Evaluate Specialty Care Access for Individuals With Down Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63977

By:

Jensen, Kayla;
Llamas, Paul;
Howard, Jace;
Berger, Heidi;
Skotko, Brian G.

Publication type:

Article

Genotyping as Part of Routine Clinical Care—The Outcomes for a Large Paediatric Vascular Anomaly Cohort.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63976

By:

O'Sullivan, Sinead;
Shilova, Maria;
Webb, Angharad;
Francis, Glenn;
Robertson, Jeremy;
Gupta, Romi Das;
Kimble, Roy;
Richmond, Christopher M.

Publication type:

Article

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long‐Term Survivors' Management.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63974

By:

McAdam, Alexa;
Ito, Yoko A.;
Richard, Marilyn;
Spiegelman, Dan;
Rochefort, Daniel;
Xiong, Lan;
Oskoui, Maryam;
Zielinski, David;
Rouleau, Guy A.;
Zhou, Sirui;
Boykott, Kym M.;
De Bie, Isabelle

Publication type:

Article

Genetic Insights Into Epidermolysis Bullosa: Identification of Novel Variants in Tunisian Patients.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63967

By:

El Mabrouk, Haifa;
Othman, Houcemeddine;
Boussofarra, Lobna;
Gribaa, Moez;
Saad, Ali;
Denguezli, Mohamed;
Has, Cristina;
H'mida, Dorra

Publication type:

Article

A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63972

By:

Schouw, Mackenna E.;
Ruivenkamp, Claudia A. L.;
Koopmann, Tamara T.;
Santen, Gijs W. E.;
Nikkels, Peter G. J.;
van der Tuin, Karin

Publication type:

Article

Cerebrospinal Fluid and Serum Neuron‐Specific Enolase in Niemann‐Pick Disease Type C1.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63970

By:

Padilla, Cameron J.;
Alexander, Derek M.;
Labor, Desiree A.;
Albert, Orsolya K.;
Robbins, Kendall P.;
Berry‐Kravis, Elizabeth;
Porter, Forbes D.

Publication type:

Article

Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63969

By:

Ginter, Jacob A.;
Beaudry, Sarah;
Guseva, Natalya;
Nagy, Jaime;
Stence, Aaron A.;
Sidhu, Alpa

Publication type:

Article

Prenatal Diagnosis of Proteus Syndrome: About a Case.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63968

By:

Giovannangeli, Luana;
Magry, Virginie;
Jobic, Florence;
Messaoudi, Kahia;
Darwiche, Walaa;
Perriere, Marianne;
Billes, Alexis;
Delmas Lanta, Ségolène;
Masurel, Alice;
Morin, Gilles;
Jedraszak, Guillaume

Publication type:

Article

Recurrent FLNA p.Gly1554Arg Variant Associated With Familial Ebstein Anomaly and Joint Stiffness.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63973

By:

Kuroda, Yukiko;
Nagai, Koki;
Kawai, Yasuhiro;
Wakamiya, Takuya;
Naruto, Takuya;
Kurosawa, Kenji

Publication type:

Article

Expansion of the Phenotype of You‐Hoover‐Fong Syndrome and Possible Increased Risk of Cancer.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63966

By:

De Falco, Alessandro;
De Gregorio, Fabiola;
Abate, Massimo Eraldo;
Paolella, Chiara;
Nigro, Vincenzo;
Scala, Iris;
Brunetti‐Pierri, Nicola

Publication type:

Article

Sodium Oxybate‐Treated Familial Myoclonus‐Dystonia Syndrome Due to Novel SGCE Variant.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63964

By:

Alghamdi, Malak Ali;
Hamad, Muddathir H.;
Alghamdi, Isra;
Alghamdi, Ghiada;
Al‐Jelaify, Muneera;
Alshimemeri, Sohaila;
Hamed, Hebattalah;
Adly, Nouran;
Salih, Mustafa A.;
Almontashiri, Naif A.;
Bashiri, Fahad A.

Publication type:

Article

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder (MRXSHG).

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63963

By:

Ghasemi, Mohammad‐Reza;
Fateh, Sahand Tehrani;
Ben‐Mahmoud, Afif;
Gupta, Vijay;
Stühn, Lara G.;
Lesca, Gaetan;
Chatron, Nicolas;
Platzer, Konrad;
Edery, Patrick;
Sadeghi, Hossein;
Isidor, Bertrand;
Cogné, Benjamin;
Schulz, Heidi L.;
Krauspe‐Stübecke, Ilona;
Periyasamy, Radhakrishnan;
Nampoothiri, Sheela;
Mirfakhraie, Reza;
Alijanpour, Sahar;
Syrbe, Steffen;
Pfeifer, Ulrich

Publication type:

Article

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63954

By:

Karger, Lisa M.;
Webb, Bryn D.;
Edelmann, Lisa;
Liao, Jun;
Mehta, Lakshmi

Publication type:

Article

Table of Contents, Volume 197A, Number 5, May 2025.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63747
Publication type:: Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63745
Publication type:: Article

Re‐Analysis Yields Diagnosis in Over 500 Patients with Rare Diseases.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63744
Publication type:: Article

Long Somatic DNA‐Repeat Expansion Responsible for Clinical Findings in Huntington's Disease.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63742
Publication type:: Article