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

Results: 34

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

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

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

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

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

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

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

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

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

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

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

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

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