Works matching IS 15524825 AND DT 2025 AND VI 197 AND IP 1

Results: 34

Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63877
By:
- Li, Qiang;
- Sun, Shuping;
- Zuo, Bin;
- Lian, Chengyu;
- Tang, Wenxue;
- Xu, Hongen;
- Lu, Wei
Publication type:
Article
Loss‐of‐Function Variant in PPP1R12A‐Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63876
By:
- Contreras‐Capetillo, Silvina Noemí;
- Abreu‐González, Melania;
- Centeno‐Navarrete, Yahir;
- Ferro‐Muñoz, Stephany Renatta;
- Ceballos‐Zapata, Julio;
- García‐Martínez, Cesiah
Publication type:
Article
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63873
By:
- McRae, Anne M.;
- Duncan, Jaime;
- Drackley, Andy;
- Ing, Alexander;
- Allegretti, Valerie;
- Raski, Carolyn R.;
- Mercier, Angelique;
- Prada, Carlos E.;
- Jurgensmeyer, Sarah
Publication type:
Article
Aortic Root Dilation and Genotype Associations in Phelan‐McDermid Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63872
By:
- Gluckman, Jake;
- Levy, Tess;
- Friedman, Kate;
- Garces, Francesca;
- Filip‐Dhima, Rajna;
- Quinlan, Aisling;
- Iannotti, Isabelle;
- Pekar, Margaret;
- Hernandez, Alexandra Lopez;
- Nava, Madison T.;
- Kravets, Elijah;
- Siegel, Abigail;
- Bernstein, Jonathan A.;
- Berry‐Kravis, Elizabeth;
- Powell, Craig M.;
- Soorya, Latha Valluripalli;
- Thurm, Audrey;
- Srivastava, Siddharth;
- Buxbaum, Joseph D.;
- Sahin, Mustafa
Publication type:
Article
A Comparison of Clinical and Radiological Presentations of Sporadic and Tuberous Sclerosis Complex‐Associated Lymphangioleiomyomatosis.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63871
By:
- Savage, Taylor E.;
- Geenen, Kennedy R.;
- Price, Melissa C.;
- El‐Chemaly, Souheil Y.;
- Henske, Elizabeth P.;
- Sharma, Amita;
- Thiele, Elizabeth A.
Publication type:
Article
A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63869
By:
- Chacon‐Camacho, Oscar F.;
- Ordaz‐Robles, Thania;
- Cid‐García, Marion A.;
- Yepes‐Rodríguez, Olivia;
- Arce‐González, Rocio;
- Martínez‐Aguilar, Alan;
- Zenteno, Juan Carlos
Publication type:
Article
MED12 Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63868
By:
- Kao, Eric C.;
- Mizerik, Elizabeth A.;
- Bacino, Carlos A.;
- Dai, Hongzheng;
- Vossaert, Liesbeth;
- Scott, Daryl A.
Publication type:
Article
Let Us Care for the Rare.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63866
By:
- Kafley, Pragya
Publication type:
Article
PRKAG2‐Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63865
By:
- White‐Brown, Alexandre M.;
- Richard, Marilyn;
- Morency, Anne‐Maude;
- Maedler‐Kron, Chelsea;
- De Bie, Isabelle
Publication type:
Article
Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63863
By:
- Parrini, Elena;
- Balestrini, Simona;
- Rutigliano, Domenico;
- Ricci, Maria Luisa;
- Mei, Davide;
- Guerrini, Renzo
Publication type:
Article
Expanding MNS1 Heterotaxy Phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63862
By:
- Maraval, Julien;
- Delahaye‐Duriez, Andrée;
- Racine, Caroline;
- Bruel, Ange‐Line;
- Denommé‐Pichon, Anne‐Sophie;
- Gaudillat, Léa;
- Thauvin‐Robinet, Christel;
- Lucain, Marie;
- Satre, Véronique;
- Coutton, Charles;
- de Sainte Agathe, Jean‐Madelaine;
- Keren, Boris;
- Faivre, Laurence
Publication type:
Article
WDR44 Loss‐of‐Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63861
By:
- Sneddon, Tam P.;
- Gilmore, Kelly L.;
- Xiong, Mai;
- Weck, Karen E.;
- Powell, Bradford C.;
- Vora, Neeta L.
Publication type:
Article
X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63860
By:
- Laflamme, Naomi;
- Triassi, Valérie;
- Martineau, Laurence;
- Toffa, Dènahin Hinnoutondji;
- Létourneau‐Guillon, Laurent;
- Laplante, Annie;
- Cossette, Patrick;
- Samarut, Éric;
- Tétreault, Martine;
- Nguyen, Dang Khoa
Publication type:
Article
Genetic Contributions to Lower Urinary Tract Dysfunction.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63859
By:
- Hiltebeitel, Lilian R.;
- Seltzsam, Steve;
- Wang, Chunyan;
- Lee, Ted;
- Bolsius, Leah;
- Shalaby, Mohamed;
- El Desoky, Sherif;
- Kari, Jameela A.;
- Shril, Shirlee;
- Hildebrandt, Friedhelm;
- Mann, Nina
Publication type:
Article
Intrafamilial Phenotypic Variability in SYNE1‐Related Disorder.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63858
By:
- Pekeles, Heather;
- Myers, Kenneth A.
Publication type:
Article
Bridging the Diagnostic Gap for Hypermobile Ehlers‐Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63857
By:
- Ritelli, Marco;
- Chiarelli, Nicola;
- Cinquina, Valeria;
- Bertini, Valeria;
- Piantoni, Silvia;
- Caproli, Alessia;
- Della Pina, Silvia Ebe Lucia;
- Franceschini, Franco;
- Zarattini, Guido;
- Gandy, Woodrow;
- Venturini, Marina;
- Zoppi, Nicoletta;
- Colombi, Marina
Publication type:
Article
Comprehensive exploration of FCHO1 mutations: Clinical manifestations and implications across disorders.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63855
By:
- Alomari, Omar;
- Ertan, Sinem Nur;
- Mokresh, Muhammed Edib;
- Yazicilar, Elif;
- Pourali, Maryam;
- Akyokus, Fatma Esra;
- Sager, Safiye Gunes;
- Cag, Yakup
Publication type:
Article
Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63854
By:
- Grange, Dorothy K.;
- Wegner, Daniel J.;
- Wambach, Jennifer A.;
- Sisco, Kathleen A.;
- Stone, Stephen I.;
- Sheehan, Jonathan H.;
- Ramsey, Keri M.;
- Narayanan, Vinodh;
- Rauen, Katherine A.;
- Cole, F. Sessions
Publication type:
Article
Aberrant behavior checklist in youth with Prader–Willi syndrome: Preliminary study of cross‐sectional and longitudinal behavior characterization.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63853
By:
- Kim, Soo‐Jeong;
- Kim, Lydia;
- Howard, Waylon;
- McNulty, Bridget;
- Salehi, Parisa
Publication type:
Article
Diverse clinical presentation of SPTBN1 variants: Complex versus primary attention‐deficit/hyperactivity disorder.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63851
By:
- O'Connell, Mia;
- Harstad, Elizabeth;
- Aites, Jennifer;
- Hayes, Katheryn;
- Arnett, Anne B.;
- Scotellaro, Julia;
- Patel, Soleha;
- Brewster, Stephanie J.;
- Barbaresi, William;
- Doan, Ryan N.
Publication type:
Article
Adherence to adult clinical practice guidelines for Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63850
By:
- Wood, Jordan C.;
- Gochyyev, Perman;
- Santoro, Stephanie L.
Publication type:
Article
Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63849
By:
- German, Ryan J.;
- Vuocolo, Blake;
- Vossaert, Liesbeth;
- Saba, Lisa;
- Fletcher, Robin;
- Tedder, Matthew L.;
- Sadikovic, Bekim;
- Kerkhof, Jennifer;
- Wangler, Michael;
- Bacino, Carlos A.
Publication type:
Article
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63848
By:
- Brugnoli, Chiara;
- Rizzi, Susanna;
- Cesaroni, Carlo Alberto;
- Spagnoli, Carlotta;
- Pregnolato, Giovanna;
- Caraffi, Stefano Giuseppe;
- Napoli, Manuela;
- Pascarella, Rosario;
- Zuntini, Roberta;
- Peluso, Francesca;
- Garavelli, Livia;
- Chiarotto, Eleonora;
- Leon, Alberta;
- Frattini, Daniele;
- Fusco, Carlo
Publication type:
Article
Chromosomal translocation resolves a diagnostic odyssey for familial Ruvalcaba syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63847
By:
- Boyd, Brenna M.;
- Fang, He;
- Allingham‐Hawkins, Diane;
- Fischer, Gregory J.;
- Peng, Siwu;
- Puryear, Lauren;
- Liu, Yajuan J.;
- Hisama, Fuki M.
Publication type:
Article
Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63846
By:
- Penon‐Portmann, Monica;
- Naugle, Kendyl;
- Brodie, Frank;
- Schallhorn, Julie;
- Griggs, Paul;
- So, Joyce
Publication type:
Article
Recessive loss‐of‐function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine–Lubinsky syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63845
By:
- Waskow, Emily R.;
- Emrick, Lisa T.;
- Rosenfeld, Jill A.;
- Ketkar, Shamika;
- Burrage, Lindsay C.;
- Scott, Daryl A.
Publication type:
Article
Deletions in the CDKL5 5′ untranslated region lead to CDKL5 deficiency disorder.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63843
By:
- Haviland, Isabel;
- Hector, Ralph D.;
- Swanson, Lindsay C.;
- Verran, Aubrie Soucy;
- Sherrill, Emma;
- Frazier, Zoë;
- Denny, AnneMarie M.;
- Lucash, Jenna;
- Zhang, Bo;
- Dubbs, Holly A.;
- Marsh, Eric D.;
- Weisenberg, Judith L.;
- Leonard, Helen;
- Crippa, Milena;
- Cogliati, Francesca;
- Russo, Silvia;
- Suter, Bernhard;
- Rajaraman, Rajsekar;
- Percy, Alan K.;
- Schreiber, John M.
Publication type:
Article
Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63842
By:
- Bürger, Olga;
- Humbel, Angelika;
- Ivanovski, Ivan;
- Baumer, Alessandra;
- Rauch, Anita
Publication type:
Article
Investigating TNNC1 gene inheritance and clinical outcomes through a comprehensive familial study.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63838
By:
- Patsalis, Constantinos;
- Kyriakou, Skevi;
- Georgiadou, Michaella;
- Ioannou, Lygia;
- Constantinou, Louisa;
- Soteriou, Valando;
- Jossif, Antonis;
- Evangelidou, Paola;
- Sismani, Carolina;
- Kypri, Elena;
- Ioannides, Marios;
- Koumbaris, George
Publication type:
Article
CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63784
By:
- Alsubeeh, Najlaa A.;
- Almuqbil, Mohammed A.;
- Davies, William;
- Bertoli‐Avella, Aida;
- Anikar, Swathi;
- Zonic, Emir;
- Eyaid, Wafaa M.
Publication type:
Article
Table of Contents, Volume 197A, Number 1, January 2025.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63731
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63730
Publication type:
Article
Long‐Read Sequencing Increases Diagnostic Yield for Rare Disease.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63729
Publication type:
Article
Repeat Expansion Disorders Likely Underdiagnosed.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63728
Publication type:
Article