Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 5

Results: 35

Expanding the phenotypic spectrum for CDK8‐related disease: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63537
By:
- Comeau, Dominique;
- Belliveau, Jenna;
- Bouhamdani, Nadia;
- Amor, Mouna Ben
Publication type:
Article
An unusual diagnosis of alpha‐mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63532
By:
- Uguen, Kevin;
- Redon, Sylvia;
- Rouault, Karen;
- Pensec, Marine;
- Benech, Caroline;
- Schutz, Sacha;
- Zanlonghi, Xavier;
- Nadjar, Yann;
- Le Maréchal, Cédric;
- Férec, Claude;
- Audebert‐Bellanger, Séverine
Publication type:
Article
Extended phenotypic characterization of a novel Helsmoortel‐van der Aa syndrome case series.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63539
By:
- Pascolini, Giulia;
- Di Zenzo, Giovanni;
- Panebianco, Annarita;
- Didona, Biagio;
- Gozes, Illana
Publication type:
Article
Evaluation of functionality‐mobility in patients with skeletal dysplasias. Application of the STEMS tool ("everyday symptoms and mobility screening tool for skeletal dysplasias").
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63538
By:
- Ramos‐Mejia, Rosario;
- Isoldi, G.;
- Ireland, P. J.;
- Rodriguez Celin, M.;
- Fano, V.
Publication type:
Article
The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8‐related intellectual developmental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63535
By:
- Yılmaz, Mustafa;
- Kamaşak, Tülay;
- Teralı, Kerem;
- Çebi, Alper Han;
- Türkyılmaz, Ayberk
Publication type:
Article
Cover Image, Volume 194A, Number 5, May 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63624
Publication type:
Article
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld‐Rieger Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63542
By:
- Farris, Joseph;
- Khanna, Cheryl;
- Smadbeck, James B.;
- Johnson, Sarah H.;
- Bothun, Erick;
- Kaplan, Tyler;
- Hoffman, Francis;
- Polonis, Katarzyna;
- Oliver, Gavin;
- Reis, Linda M.;
- Semina, Elena V.;
- Rust, Laura;
- Hoppman, Nicole L.;
- Vasmatzis, George;
- Marcou, Cherisse A.;
- Schimmenti, Lisa A.;
- Klee, Eric W.
Publication type:
Article
Recurrent missense variant identified in two unrelated families with MPZL2‐related hearing loss, expanding the variant spectrum associated with DFNB111.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63530
By:
- Lo, Emma;
- Blair, Justin;
- Yamamoto, Nobuko;
- Diaz‐Miranda, Maria Alejandra;
- Bedoukian, Emma;
- Gray, Christopher;
- Lawrence, Audrey;
- Dedhia, Kavita;
- Elden, Lisa M.;
- Germiller, John A.;
- Kazahaya, Ken;
- Sobol, Steven E.;
- Luo, Minjie;
- Krantz, Ian D.;
- Hartman, Tiffiney R.
Publication type:
Article
c.202_204del in NUP214 causes late onset form of febrile encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63529
By:
- Farooqui, Sheeba;
- Narayanan, Dhanya Lakshmi;
- Mascarenhas, Selinda;
- do Rosario, Michelle C.;
- Nair, Karthik Vijay;
- Periyasamy, Radhakrishnan;
- Shukla, Anju
Publication type:
Article
Data from electronic healthcare records expand our understanding of X‐linked genetic diseases.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63527
By:
- Tinker, Rory J.;
- Bastarache, Lisa;
- Ezell, Kimberly;
- Neumann, Serena M.;
- Furuta, Yutaka;
- Morgan, Karee A.;
- Phillips, John A.
Publication type:
Article
Novel CHRNA3 variants identified in a patient with bladder dysfunction, dysautonomia, and gastrointestinal dysmotility.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63526
By:
- Anand, Asha;
- Hildebrandt, Clara C.;
- Shenoy, Vivek;
- Sutherland, Richard W.
Publication type:
Article
Radiological characteristics of skeletal growth in neonates and infants with achondroplasia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63525
By:
- Miyahara, Daisuke;
- Hasegawa, Kosei;
- Ago, Yuko;
- Futagawa, Natsuko;
- Miyahara, Hiroyuki;
- Higuchi, Yousuke;
- Yamada, Kazuki;
- Tetsunaga, Tomonori;
- Moriwake, Tadashi;
- Tanaka, Hiroyuki;
- Tsukahara, Hirokazu
Publication type:
Article
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63524
By:
- Santoro, Jonathan D.;
- Jafarpour, Saba;
- Khoshnood, Mellad M.;
- Boyd, Natalie K.;
- Vogel, Benjamin N.;
- Nguyen, Lina;
- Saucier, Laura E.;
- Partridge, Rebecca;
- Tiongson, Emmanuelle;
- Ramos‐Platt, Leigh;
- Nagesh, Deepti;
- Ho, Eugenia;
- Rosser, Tena;
- Ahsan, Nusrat;
- Mitchell, Wendy G.;
- Rafii, Michael S.
Publication type:
Article
Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63523
By:
- Ramírez‐Cheyne, Julián;
- López, Diana;
- Payán‐Gómez, César;
- Arcos‐Burgos, Mauricio;
- Saldarriaga, Wilmar
Publication type:
Article
Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63522
By:
- Del Gobbo, Giulia F.;
- Wang, Xueqi;
- Couse, Madeline;
- Mackay, Layla;
- Goldsmith, Claire;
- Marshall, Aren E.;
- Liang, Yijing;
- Lambert, Christine;
- Zhang, Siyuan;
- Dhillon, Harsharan;
- Fanslow, Cairbre;
- Rowell, William J.;
- Marshall, Christian R.;
- Kernohan, Kristin D.;
- Boycott, Kym M.
Publication type:
Article
Multi‐locus pathogenic variation identified in a patient with craniosynostosis.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63521
By:
- Yoon, Jihoon G.;
- Yu, Jung Woo;
- Shim, Kyu Won;
- Kim, Yong Oock;
- Lee, Min Goo
Publication type:
Article
Split‐hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63520
By:
- Langeh, Nitika;
- Ansari, Mohammed Tahir;
- Kabra, Madhulika;
- Gupta, Neerja
Publication type:
Article
Progressive encephalopathy after routine 4‐month immunizations in a patient with NAXD genetic variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63519
By:
- Cepress, Marissa;
- Grund, Ethan;
- Leng, Tomas;
- Patterson, Marc;
- Saify, Mariya;
- Mohandesi, Nessa Aghazadeh;
- Homme, Jason
Publication type:
Article
High number of candidate gene variants are identified as disease‐causing in a period of 4 years.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63509
By:
- Hills, Sonia;
- Li, Qifei;
- Madden, Jill A.;
- Genetti, Casie A.;
- Brownstein, Catherine A.;
- Schmitz‐Abe, Klaus;
- Beggs, Alan H.;
- Agrawal, Pankaj B.
Publication type:
Article
Biallelic LZTR1 variants in a 49‐year‐old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63518
By:
- Di Stolfo, Giuseppe;
- Petracca, Antonio;
- Bevere, Ester Maria Lucia;
- Pracella, Riccardo;
- Potenza, Domenico Rosario;
- Fusco, Carmela;
- Mastroianno, Sandra;
- Castori, Marco
Publication type:
Article
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63516
By:
- Zhao, Jian;
- Longo, Nicola;
- Lewis, Robert G.;
- Nicholas, Thomas J.;
- Boyden, Steven E.;
- Andrews, Ashley;
- Larson, Austin;
- Bayrak‐Toydemir, Pinar;
- Botto, Lorenzo D.;
- Mao, Rong
Publication type:
Article
A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63515
By:
- Papingi, Dzhoy;
- Bierhals, Tatjana;
- Volk, Alexander E.;
- Kutsche, Michael;
- Paul, Kevin;
- Herget, Theresia
Publication type:
Article
Double somatic mosaicism in Cornelia de Lange syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63512
By:
- Pezzani, Lidia;
- Pezzoli, Laura;
- Rosina, Erica;
- Scatigno, Agnese;
- Cereda, Anna;
- Lucca, Camilla;
- Bellini, Matteo;
- Marchetti, Daniela;
- Maino, Marzia;
- Mangili, Giovanna;
- Selicorni, Angelo;
- Iascone, Maria
Publication type:
Article
TREX‐1 related Aicardi‐Goutières syndrome improved by Janus kinase inhibitor.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63510
By:
- Ryckmans, Claire;
- Donge, Mylène;
- Marchèse, Antonia;
- Mastouri, Meriem;
- Thomee, Caroline;
- Stouffs, Katrien;
- Lieser, Sandra‐Lucile;
- Scalais, Emmanuel
Publication type:
Article
Late‐onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63517
By:
- De Falco, Alessandro;
- Karali, Marianthi;
- Criscuolo, Chiara;
- Testa, Francesco;
- Barillari, Maria Rosaria;
- Scarpato, Margherita;
- Gaudieri, Valeria;
- Cuocolo, Alberto;
- Russo, Anna;
- Nigro, Vincenzo;
- Simonelli, Francesca;
- Banfi, Sandro;
- Brunetti‐Pierri, Nicola
Publication type:
Article
Long‐term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63508
By:
- Hofmann, Christoph;
- Syrbe, Steffen;
- Hebe, Joachim;
- Kreft, Jannis;
- Stark, Sebastian;
- Milde, Till;
- Völkers, Mirko;
- Hoffmann, Georg Friedrich;
- Gorenflo, Matthias;
- Kovacevic, Alexander
Publication type:
Article
Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63505
By:
- Jackson, Suellen;
- Freeman, Rebecca;
- Noronha, Adriana;
- Jamil, Hafsah;
- Chavez, Eric;
- Carmichael, Jason;
- Ruiz, Kaylee M.;
- Miller, Christine;
- Benke, Sarah;
- Perrot, Rosalie;
- Hockley, Maryam;
- Murphy, Kady;
- Casillan, Aimiel;
- Radanovich, Lily;
- Deforest, Roger;
- Nunes, Mark E.;
- Galarreta‐Aima, Carolina;
- Sidlow, Richard;
- Einhorn, Yaron;
- Woods, Jeremy
Publication type:
Article
A novel single‐base deletional mutation of MIP impairs protein distribution and cell‐to‐cell adhesion in autosomal dominant cataracts in a Chinese family.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63504
By:
- Yu, Yinhui;
- Qiao, Yue;
- Ye, Yang;
- Luo, Chenqi;
- Yao, Ke
Publication type:
Article
A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63499
By:
- Liaqat, Khurram;
- Treat, Kayla;
- Mantcheva, Lili;
- Nasir, Abdul;
- Weaver, David D.;
- Conboy, Erin;
- Vetrini, Francesco
Publication type:
Article
RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta‐analysis.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63494
By:
- Makhamreh, Mona M.;
- Shivashankar, Kavya;
- Araji, Sarah;
- Critchlow, Elizabeth;
- O'Brien, Barbara M.;
- Wodoslawsky, Sascha;
- Berger, Seth I.;
- Al‐Kouatly, Huda B.
Publication type:
Article
Growth, body composition, and endocrine‐metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63472
By:
- Bouman, Arianne;
- Geelen, Joyce M.;
- Kummeling, Joost;
- Schenck, Annette;
- van der Zwan, Yvonne G.;
- Klein, Willemijn M.;
- Kleefstra, Tjitske
Publication type:
Article
Table of Contents, Volume 194A, Number 5, May 2024.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, 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. 5, p. 1, doi. 10.1002/ajmg.a.63270
Publication type:
Article
In Memoriam: Ishwar Chander Verma, MD (1936‐2024).
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63269
Publication type:
Article
Alphamissense Predictive of Pathogenic Protein Variants.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63268
Publication type:
Article