Works matching IS 15524825 AND DT 2025 AND VI 197 AND IP 4

Results: 34

Transcriptomic and Metabolomic Analyses in Monozygotic and Dizygotic Twins.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63971

By:

Hubers, Nikki;
Drouard, Gabin;
Jansen, Rick;
Pool, René;
Hottenga, Jouke Jan;
Ollikainen, Miina;
Wang, Xiaoling;
Willemsen, Gonneke;
Kaprio, Jaakko;
Boomsma, Dorret I.;
van Dongen, Jenny

Publication type:

Article

COL4A2‐Related Disorder Presenting in Adulthood With Rhabdomyolysis.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63965

By:

Olarewaju, Bukola A.;
Tejon, Judy;
Shurrab, Shaymaa;
Chen, Alicia;
Shamoun, Fadi;
Smith, Benn E.;
Osundiji, Mayowa A.

Publication type:

Article

CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63962

By:

Arany, Eszter Sara;
Zocche, David;
Mellerio, Jemima E.;
Holder‐Espinasse, Muriel;
Cobben, Jan

Publication type:

Article

Community‐Sourced Reporting of Mortalities in Angelman Syndrome (1979–2022).

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63961

By:

Gomes, Adriana T.;
Moore, Amanda;
Cross, Meagan;
Hardesty, Cristy;
David, Kelly;
Sampedro, Maria Galan;
Dube, Sophie;
Weil‐Chalker, Sharon;
Montepagano, Adela Gentil;
Christel, Ursula;
Martin, Rachel;
Wheeler, Anne;
Tan, Wen‐Hann;
Bird, Lynne M.;
Bichell, Terry Jo

Publication type:

Article

Gonadal Mosaicism for an ASH1L Intragenic Deletion Makes a Bridge Between MRD52 and 1q22 Microdeletion.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63960

By:

Di Muro, Ester;
Petracca, Antonio;
Castori, Marco;
Palumbo, Orazio

Publication type:

Article

Exploring the Clinical Spectrum of HUWE1‐Related Neurodevelopmental Disorder: Five New Patients and Literature Review.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63959

By:

De Falco, Alessandro;
Minale, Elia Marco Paolo;
Meossi, Camilla;
Pagano, Stefano;
Trovato, Rosanna;
Agolini, Emanuele;
Mucciolo, Mafalda;
Novelli, Antonio;
Bartolini, Emanuele;
Santorelli, Filippo Maria;
Piscopo, Carmelo

Publication type:

Article

A Homozygous Nonsense Variant in the BICC1 Gene Associated With Fetal Cystic Kidney Disease and Lower Limb Post‐Axial Polydactyly.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63958

By:

Tamhankar, Vasundhara Parag;
Prasad, Malathy;
Vaniawala, Shalin;
Nair, Sandhya;
Mithbawkar, Shilpa;
Tamhankar, Parag M.

Publication type:

Article

The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63957

By:

Angwin, C.;
Byers, P.;
Dulfer, E.;
Ghali, N.;
Harris, Juliette;
Hausser, I.;
McElroy, Abigail;
Sobey, G.;
van Dijk, F. S.

Publication type:

Article

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63956

By:

Tan, Queenie K.‐G.;
McConkie‐Rosell, Allyn;
Mahoney, Rachel;
Spillmann, Rebecca C.;
Schoch, Kelly;
Chanprasert, Sirisak;
Acosta, Maria T.;
Toro, Camilo;
Rosenfeld, Jill A.;
Orengo, James P.;
Scott, Daryl A.;
Granadillo, Jorge L.;
Sisco, Kathleen;
Wegner, Daniel J.;
Tekin, Mustafa;
Bivona, Stephanie;
Peart, LéShon;
Rodan, Lance;
Bonner, Devon;
Wheeler, Matthew T.

Publication type:

Article

Implementing a Quality Improvement Initiative to Screen for Dementia in a Down Syndrome Specialty Clinic.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63948

By:

Santoro, Stephanie L.;
Harisinghani, Ayesha;
Bregman, Caroline;
Cottrell, Clorinda;
Pulsifer, Margaret B.;
Shaffer, Mikayla;
Torres, Amy;
Skotko, Brian G.;
Oreskovic, Nicolas M.

Publication type:

Article

Dr. Peter Emil Becker and the Third Reich: Correspondence.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63955

By:

Becker, Tilman

Publication type:

Article

A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63952

By:

Uctepe, Eyyup;
Mancılar, Hanifenur;
Esen, Fatma Nisa;
Unverengil, Gokcen Gundogdu;
Vona, Barbara;
Yesilyurt, Ahmet

Publication type:

Article

Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic Anemia.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63951

By:

Gao, Min;
Chen, Yunjia;
Lertwilaiwittaya, Pongtawat;
Hurst, Anna C. E.;
Al‐Beshri, Ali;
Carroll, Andrew J.;
Mikhail, Fady M.

Publication type:

Article

From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63950

By:

Daşar, Tuğba;
Ürel Demir, Gizem;
İmren, Gözde;
Utine, Gülen Eda;
Yilmaz, Güney;
Şimşek Kiper, Pelin Özlem

Publication type:

Article

Immune Dysregulation in a Child With SOD1‐Related Neurological Disease.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63949

By:

Boutin, Rozlyn Claire Thomas;
Shobeirian, Farzaneh;
Adam, Shelin;
Lehman, Anna;
Salvarinova, Ramona;
Friedman, Jan M

Publication type:

Article

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz‐Isidor Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63953

By:

Feresin, Agnese;
Spedicati, Beatrice;
Zampieri, Stefania;
Morgan, Anna;
Magnolato, Andrea;
Tesser, Alessandra;
Tommasini, Alberto;
Bonati, Maria Teresa;
Girotto, Giorgia;
Faletra, Flavio

Publication type:

Article

SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63947

By:

Kayani, Saima;
Daescu, Victor;
Dahshi, Hamza;
Messahel, Souad;
Woleban, Kasey;
Minassian, Berge A.;
Ling, Qinglan;
Gray, Steven J.

Publication type:

Article

2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty‐Five New Cases and Review of the Literature.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63946

By:

Elron, Eyal;
Shohat, Mordechai;
Basel‐Salmon, Lina;
Kahana, Sarit;
Matar, Reut;
Klein, Kochav;
Agmon‐Fishman, Ifaat;
Gurevitch, Merav;
Berger, Rachel;
Brabbing‐Goldstein, Dana;
Levy, Michal;
Maya, Idit

Publication type:

Article

Alu‐Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63945

By:

Durmaz, Ceren Damla;
Gümrük, Fatma;
Celkan, Tiraje;
Unal, Sule;
Çetinkaya, Arda

Publication type:

Article

A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63944

By:

Del Gobbo, Giulia F.;
Wang, Xueqi;
MacDonald, Stella K.;
Liang, Yijing;
McMillan, Hugh J.;
Lemire, Gabrielle;
Boycott, Kym M.

Publication type:

Article

Chronic Catatonia in an Individual With a De Novo Missense SHANK1 Variant.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63943

By:

Dahlberg, Paige M.;
Harris, Holly K.;
Lloyd Holder, J.

Publication type:

Article

Novel Genetic Variants Linked to Autism Identified in Diverse Populations.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63262
Publication type:: Article

Quality of Life in Short Stature Children With Skeletal Dysplasia: A Cross Sectional Study Using the Quality of Life in Short Stature Youth Questionnaire.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63942

By:

Kamiya, Yasunari;
Matsushita, Masaki;
Mishima, Kenichi;
Sawamura, Kenta;
Kitoh, Hiroshi

Publication type:

Article

Long‐Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63940

By:

Grady, Lauren O′;
Zoltick, Emilie S.;
Zouk, Hana;
He, Wei;
Perez, Emma;
Clarke, Lorne;
Gold, Jessica;
Strong, Alanna;
Sahai, Inderneel;
Yeo, Julie;
Green, Robert C.;
Karaa, Amel;
Gold, Nina B.

Publication type:

Article

Vitamin B5 Monotherapy Improves Symptoms in a 7‐Year‐Old Girl With TANGO2 Deficiency Disorder.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63938

By:

Li, Hua;
Xu, Zheng;
Guo, Jing;
Zhang, Peiqi;
Dong, Xiaoli;
Zhao, Liming

Publication type:

Article

From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi‐System Involvement.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63934

By:

Durmusalioglu, Enise Avci;
Dogan, Yusuf Can;
Tan, Turkan Turkut;
Cogulu, Dilsah;
Isik, Esra;
Cogulu, Ozgur;
Atik, Tahir

Publication type:

Article

An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63932

By:

Coudert, Alicia;
Thevenon, Julien;
Testard, Quentin;
Satre, Véronique;
Harbuz, Radu;
Bouvagnet, Patrice;
Rabattu, Pierre‐Yves;
Coutton, Charles;
Le Tanno, Pauline

Publication type:

Article

Subacute Neuropathy Post‐Liver Transplantation in Zellweger Spectrum Disorder: A Case Report.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63941

By:

Gonzalez, Clarissa;
Cohen, Madelyn J.;
Hong, Juhee;
Calame, Daniel;
Marri, Kavitha;
Harpavat, Sanjiv;
Wangler, Michael F.;
Mysore, Krupa

Publication type:

Article

Health Care Transition Programs for Adolescents and Young Adults With Hereditary Cancer Predisposition: A Scoping Review.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63931

By:

Gabriel, Jazmine;
Lyons, Tierney;
Schlieder, Victoria;
Zultevicz, Sarah;
Frasch, Bryel;
Davis, Thomas W.;
Buchanan, Adam H.;
Campbell‐Salome, Gemme

Publication type:

Article

Proband‐Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63915

By:

Ghalamkari, Safoura;
Mianesaz, Hamidreza;
Chitsaz, Ahmad;
Ghazavi, Mohammadreza;
Salehi, Mansoor

Publication type:

Article

Table of Contents, Volume 197A, Number 4, April 2025.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63743
Publication type:: Article

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63741
Publication type:: Article

De Novo Variants in LRRC8C Linked to Rare Disorder.

Published in:: American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63740
Publication type:: Article

De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63923

By:

Racine, C.;
Callier, P.;
Touraine, R.;
Vitobello, A.;
Hanna, N.;
Arnaud, P.;
Jondeau, G.;
Boileau, C.;
Thauvin‐Robinet, C.;
Creveaux, I.;
Gatinois, V.;
Willems, M.;
Faivre, L.

Publication type:

Article