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