Falik-Zaccai T - Search Results

1

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R. Platzer K, et al. Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3. Am J Hum Genet. 2019. PMID: 30612693 Free PMC article.

2

Population screening in a Druze community: the challenge and the reward.

Falik-Zaccai TC, Kfir N, Frenkel P, Cohen C, Tanus M, Mandel H, Shihab S, Morkos S, Aaref S, Summar ML, Khayat M. Falik-Zaccai TC, et al. Genet Med. 2008 Dec;10(12):903-9. doi: 10.1097/GIM.0b013e31818d0e0f. Genet Med. 2008. PMID: 19092443 Free article.

3

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.

Falik-Zaccai TC, Khayat M, Luder A, Frenkel P, Magen D, Brik R, Gershoni-Baruch R, Mandel H. Falik-Zaccai TC, et al. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):46-56. doi: 10.1002/ajmg.b.30945. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19308961

4

COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

Mandel H, Cohen Kfir N, Fedida A, Shuster Biton E, Odeh M, Kalfon L, Ben-Harouch S, Fleischer Sheffer V, Hoffman Y, Goldberg Y, Dinwiddie A, Dumin E, Eran A, Apel-Sarid L, Tiosano D, Falik-Zaccai TC. Mandel H, et al. Clin Genet. 2020 Oct;98(4):402-407. doi: 10.1111/cge.13816. Epub 2020 Aug 4. Clin Genet. 2020. PMID: 32683677

5

Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4.

Fedida A, Ben Harouch S, Kalfon L, Abunassar Z, Omari H, Mandel H, Falik-Zaccai TC. Fedida A, et al. Eur J Med Genet. 2020 Nov;63(11):104020. doi: 10.1016/j.ejmg.2020.104020. Epub 2020 Aug 20. Eur J Med Genet. 2020. PMID: 32827718

6

Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome Division.

Honsho M, Abe Y, Imoto Y, Chang ZF, Mandel H, Falik-Zaccai TC, Fujiki Y. Honsho M, et al. Int J Mol Sci. 2020 Oct 28;21(21):8040. doi: 10.3390/ijms21218040. Int J Mol Sci. 2020. PMID: 33126676 Free PMC article.

7

Concomitant congenital CMV infection and inherited liver diseases.

Swed-Tobia R, Kassis I, Weiss K, Tal G, Shaoul R, Falik-Zaccai TC, Mandel H, Meir M. Swed-Tobia R, et al. Eur J Med Genet. 2021 Aug;64(8):104249. doi: 10.1016/j.ejmg.2021.104249. Epub 2021 May 20. Eur J Med Genet. 2021. PMID: 34023521

8

Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants.

Kalfon L, Baydany M, Samra N, Heno N, Segal Z, Eran A, Yulevich A, Fellig Y, Mandel H, Falik-Zaccai TC. Kalfon L, et al. Mol Genet Genomic Med. 2022 Jan;10(1):e1849. doi: 10.1002/mgg3.1849. Epub 2021 Dec 31. Mol Genet Genomic Med. 2022. PMID: 34970863 Free PMC article.

9

Genetic defects in peroxisome morphogenesis (Pex11β, dynamin-like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid-phospholipid metabolism.

Abe Y, Wanders RJA, Waterham HR, Mandel H, Falik-Zaccai TC, Ishihara N, Fujiki Y. Abe Y, et al. Among authors: falik zaccai tc. J Inherit Metab Dis. 2023 Mar;46(2):273-285. doi: 10.1002/jimd.12582. Epub 2022 Dec 23. J Inherit Metab Dis. 2023. PMID: 36522796

10

Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency: a newly recognized association.

Luder AS, Mandel H, Khayat M, Gurevich I, Frankel P, Rivlin J, Falik-Zaccai TC. Luder AS, et al. J Pediatr. 2007 Jun;150(6):656-8, 658.e1. doi: 10.1016/j.jpeds.2007.03.025. J Pediatr. 2007. PMID: 17517257

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