Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 3

Results: 34

A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63468
By:
- Fellows, Bridget J.;
- Tolezano, Giovanna Cantini;
- Pires, Sara Ferreira;
- Ruegg, Mischa S. G.;
- Knapp, Karen M.;
- Krepischi, Ana Cristina Victorino;
- Bicknell, Louise S.
Publication type:
Article
Vertebral artery dissection caused by atlantoaxial dislocation in a patient with Marfan syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63467
By:
- Vornetti, Gianfranco;
- Renzetti, Benedetta;
- Vara, Giulio;
- Tonon, Caterina;
- Lodi, Raffaele;
- Conti, Alfredo;
- Serchi, Elena;
- Donti, Andrea;
- Mariucci, Elisabetta;
- Spinardi, Luca
Publication type:
Article
Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63466
By:
- de Kock, Leanne;
- Cuillerier, Alexanne;
- Gillespie, Meredith;
- Couse, Madeline;
- Hartley, Taila;
- Mears, Wendy;
- Bernier, Francois P.;
- Chudley, Albert E.;
- Frosk, Patrick;
- Nikkel, Sarah M.;
- Innes, A. Micheil;
- Lauzon, Julie;
- Thomas, Maryann;
- Guerin, Andrea;
- Armour, Christine M.;
- Weksberg, Rosanna;
- Scott, James N.;
- Watkins, Debra;
- Harvey, Shirley;
- Cytrynbaum, Cheryl
Publication type:
Article
Arterial tortuosity in pediatric Loeys‐Dietz syndrome patients.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63465
By:
- Brunet‐Garcia, Laia;
- Prabaharan, Pirasuja;
- Bruyndonckx, Luc;
- Field, Ella;
- D'Arco, Felice;
- Capelli, Claudio;
- Cervi, Elena
Publication type:
Article
John M Opitz: Physician, morphologist, scholar, editor (1935–2023).
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63482
By:
- Carey, John C.;
- Spranger, Jürgen;
- Lewin, Susan;
- Neri, Giovanni
Publication type:
Article
Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63475
By:
- Aljaberi, Rana;
- Vengoechea, Jaime
Publication type:
Article
Biallelic variants of the first Kunitz domain of SPINT2 cause a non‐syndromic form of congenital diarrhea and tufting enteropathy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63474
By:
- Al Rawahi, Yusriya;
- Al Sunaidi, Omar;
- Al‐Masqari, Mohammed;
- Al Jamei, Adawiya;
- Rahamtalla, Dafalla;
- Al‐Maawali, Almundher
Publication type:
Article
Clinical phenotypes of individuals with Chung–Jansen syndrome across age groups.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63471
By:
- Sudnawa, Khemika K.;
- Calamia, Sean;
- Geltzeiler, Alexa;
- Chung, Wendy K.
Publication type:
Article
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63469
By:
- Ramos‐Mejía, Rosario;
- Heath, Karen E.;
- Modamio‐Høybjør, Silvia;
- Huckstadt, Victoria;
- Calcagni, Julián;
- Remondino, Rodrigo;
- Fano, Virginia
Publication type:
Article
A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63464
By:
- Darouich, Sihem;
- Darouich, Samia
Publication type:
Article
Calloso‐adreno‐scrotal agenesis associated with biallelic MAPK‐activating death domain protein (MADD) variant: Further phenotypic delineation of MADD deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63463
By:
- Darouich, Sihem;
- Darouich, Samia
Publication type:
Article
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63462
By:
- Chandrasekhar, Anjana;
- Mroczkowski, Henry J.;
- Urraca, Nora;
- Gross, Andrew;
- Bluske, Krista;
- Thorpe, Erin;
- Hagelstrom, R. Tanner;
- Schonberg, Steven A.;
- Perry, Denise L.;
- Taft, Ryan J.;
- Kesari, Akanchha
Publication type:
Article
Heteroplasmic pathogenic m.12315G>A variant in MT‐TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63461
By:
- Snyder, Matthew T.;
- Manor, Joshua;
- Gijavanekar, Charul;
- Mizerik, Elizabeth;
- Kralik, Stephen F.;
- Elsea, Sarah H.;
- Machol, Keren;
- Emrick, Lisa;
- Scaglia, Fernando
Publication type:
Article
Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63459
By:
- Carrer, Alessia;
- Romaniello, Maria Giovanna;
- Calderara, Maria Letizia;
- Mariani, Milena;
- Biondi, Andrea;
- Selicorni, Angelo
Publication type:
Article
Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63458
By:
- Boelman, Maria Bejerholm;
- Hansen, Thomas van Overeem;
- Smith, Matthias Nybro;
- Hammer‐Hansen, Sophia;
- Christensen, Alex Hørby;
- Diness, Birgitte Rode
Publication type:
Article
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63457
By:
- Bourgois, Alexia;
- Bizaoui, Varoona;
- Colson, Cindy;
- Vincent‐Devulder, Aline;
- Molin, Arnaud;
- Gérard, Marion;
- Gruchy, Nicolas
Publication type:
Article
Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63456
By:
- von Scheibler, Emma N. M. M.;
- Widdershoven, Josine C. C.;
- van Barneveld, Denise C. P. B. M.;
- Schröder, Nina;
- van Eeghen, Agnies M.;
- van Amelsvoort, Thérèse A. M. J.;
- Boot, Erik
Publication type:
Article
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63455
By:
- Bhola, Priya T.;
- Mishra, Radha;
- Posey, Jennifer E.;
- Hamilton, Leslie E.;
- Graham, Gail E.;
- Punetha, Jaya;
- Lupski, James R.;
- Boycott, Kym M.;
- D'Amours, Damien;
- Kernohan, Kristin D.
Publication type:
Article
Probable digenic inheritance of Diamond–Blackfan anemia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63454
By:
- Furuta, Yutaka;
- Tinker, Rory J;
- Gulsevin, Alican;
- Neumann, Serena M.;
- Hamid, Rizwan;
- Cogan, Joy D.;
- Rives, Lynette;
- Liu, Qi;
- Chen, Hua‐Chang;
- Joos, Karen M.;
- Phillips, John A.
Publication type:
Article
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63453
By:
- Furukawa, Shogo;
- Kato, Mitsuhiro;
- Nomura, Toshihiro;
- Sumitomo, Noriko;
- Yoneno, Shota;
- Nakashima, Mitsuko;
- Saitsu, Hirotomo
Publication type:
Article
Understanding recessive disease risk in multi‐ethnic populations with different degrees of consanguinity.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63452
By:
- La Rocca, Luis A.;
- Frank, Julia;
- Bentzen, Heidi Beate;
- Pantel, Jean Tori;
- Gerischer, Konrad;
- Bovier, Anton;
- Krawitz, Peter M.
Publication type:
Article
45,X/46,XY mosaicism: Clinical manifestations and long term follow‐up.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63451
By:
- Alkhunaizi, Ebba;
- Albrecht, Jenna Plamondon;
- Aarabi, Mahmoud;
- Witchel, Selma F.;
- Wherrett, Diane;
- Babul‐Hirji, Riyana;
- Dupuis, Annie;
- Chiniara, Lyne;
- Chater‐Diehl, Eric;
- Shago, Mary;
- Shuman, Cheryl;
- Rajkovic, Aleksandar;
- Yatsenko, Svetlana A.;
- Chitayat, David
Publication type:
Article
The importance of patient‐specific resources for families dealing with prenatal rare diseases.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63450
By:
- Shukla, Dhyanam P.;
- Cutshall, Jennifer Ortiz;
- van der Heijden, Lex;
- Schindewolf, Erica;
- Sheppard, Sarah E.
Publication type:
Article
New cases of recently described Thauvin‐Robinet‐Faivre syndrome with a novel homozygous FIBP gene variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63449
By:
- Kılıç, Esra;
- Koşukcu, Can
Publication type:
Article
Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63446
By:
- Kimball, Tamara N.;
- Rivero‐García, Pamela;
- Barrera‐Godínez, Alejandro;
- Domínguez‐Cherit, Judith
Publication type:
Article
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63445
By:
- Sewani, Soha;
- Azamian, Mahshid S.;
- Mendelsohn, Bryce A.;
- Mau‐Them, Frederic Tran;
- Réda, Manon;
- Nambot, Sophie;
- Isidor, Bertrand;
- van der Smagt, Jasper J.;
- Shen, Joseph J.;
- Shillington, Amelle;
- White, Lori;
- Elloumi, Houda Zghal;
- Baker, Peter R.;
- Svihovec, Shayna;
- Brown, Kathleen;
- Koopman‐Keemink, Yvonne;
- Hoffer, Mariette J. V.;
- Lakeman, Inge M. M.;
- Brischoux‐Boucher, Elise;
- Kinali, Maria
Publication type:
Article
The phenotypic heterogeneity of the variant m.5537_5538insT in MT‐TW does not only depend on the heteroplasmy rates.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63437
By:
- Finsterer, Josef
Publication type:
Article
Clinical relevance of genetic variants in the von Willebrand factor according to in‐silico methods.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63430
By:
- Woods, Adriana Inés;
- Primrose, Débora Marina;
- Paiva, Juvenal;
- Blanco, Alicia Noemí;
- Alberto, María Fabiana;
- Sánchez‐Luceros, Analía
Publication type:
Article
Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63422
By:
- Singh, Swati;
- Jacob, Prince;
- Patil, Siddaramappa J.;
- Muranjan, Mamta;
- Shah, Hitesh;
- Girisha, Katta M.;
- Bhavani, Gandham SriLakshmi
Publication type:
Article
Undifferentiated psychosis or schizophrenia associated with vermis‐predominant cerebellar hypoplasia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63416
By:
- Leslie, Alison C.;
- Ward, Mitchell P.;
- Dobyns, William B.
Publication type:
Article
First report on female monozygotic twins discordant for congenital nephrogenic diabetes insipidus.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63407
By:
- Chen, Xiang;
- Yun, Libing;
- Long, Yang;
- Sun, Yuxia;
- Chen, Tao
Publication type:
Article
Table of Contents, Volume 194A, Number 3, March 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63255
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63261
Publication type:
Article
Susan D. Klugman, MD, FACOG, FACMG.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63260
Publication type:
Article