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

Results: 34

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 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

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

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

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

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

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

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

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

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

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