Colaiacovo S - Search Results

1

Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings.

Schott C, Colaiacovo S, Baker C, Weir MA, Connaughton DM. Schott C, et al. Among authors: colaiacovo s. Can J Kidney Health Dis. 2024 Apr 14;11:20543581241242562. doi: 10.1177/20543581241242562. eCollection 2024. Can J Kidney Health Dis. 2024. PMID: 38623282 Free PMC article.

2

Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous couple.

Al Harthy T, Colaiacovo S, Gratton RJ, Coughlin K, Siu VM, Prasad C, Rupar C, Saleh M. Al Harthy T, et al. Among authors: colaiacovo s. Clin Case Rep. 2023 Aug 23;11(8):e7827. doi: 10.1002/ccr3.7827. eCollection 2023 Aug. Clin Case Rep. 2023. PMID: 37637203 Free PMC article.

3

An uninformative NIPT as an early indicator of cri-du-chat due to a chromosomal 5;18 translocation-An atypical presentation of a rare cytogenetic phenomenon.

Shukla D, Dinunzio M, Colaiacovo S, Meybodi AM, Saleh M. Shukla D, et al. Among authors: colaiacovo s. Clin Case Rep. 2023 Jul 30;11(8):e7732. doi: 10.1002/ccr3.7732. eCollection 2023 Aug. Clin Case Rep. 2023. PMID: 37529133 Free PMC article.

4

Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Wojcik MH, et al. Among authors: colaiacovo s. Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183572

5

Pancytopenia, splenomegaly, and mild bony abnormalities secondary to novel variants in thromboxane synthetase: An unusual cause of bone marrow failure.

Kowalczyk A, Chopra YR, Saleh M, Colaiacovo S, Dror Y, Leppington S, Tole S. Kowalczyk A, et al. Among authors: colaiacovo s. Pediatr Blood Cancer. 2023 Jun;70(6):e30253. doi: 10.1002/pbc.30253. Epub 2023 Feb 14. Pediatr Blood Cancer. 2023. PMID: 36786374 No abstract available.

6

A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting.

Shepherd WB, Colaiacovo S, Campbell C, Saleh M. Shepherd WB, et al. Among authors: colaiacovo s. Clin Genet. 2023 Feb;103(2):254-255. doi: 10.1111/cge.14253. Epub 2022 Nov 1. Clin Genet. 2023. PMID: 36320120

7

Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.

Saleh M, Colaiacovo S, Napier MP, Prasad AN, Rupar CA, Prasad C. Saleh M, et al. Among authors: colaiacovo s. Case Rep Genet. 2022 May 25;2022:9393042. doi: 10.1155/2022/9393042. eCollection 2022. Case Rep Genet. 2022. PMID: 35663206 Free PMC article.

8

OTX2 mutation associated with severe myopia in a Canadian family.

Wangding S, Colaiacovo S, Makar I, Saleh M. Wangding S, et al. Among authors: colaiacovo s. Ophthalmic Genet. 2022 Jun;43(3):389-391. doi: 10.1080/13816810.2021.2015791. Epub 2021 Dec 26. Ophthalmic Genet. 2022. PMID: 34957897

9

The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.

Heikoop D, Brick L, Chitayat D, Colaiacovo S, Dupuis L, Faghfoury H, Goobie S, Mendoza R, Napier M, Nowaczyk M, Oh R, Silver J, Prasad C, Saleh M. Heikoop D, et al. Among authors: colaiacovo s. Am J Med Genet A. 2021 Dec;185(12):3793-3803. doi: 10.1002/ajmg.a.62452. Epub 2021 Aug 20. Am J Med Genet A. 2021. PMID: 34414661

10

Aromatase deficiency in an Ontario Old Order Mennonite family.

Kim SY, Colaiacovo S, Dave S, Coughlin K, Langdon K, Stein R, Saleh M. Kim SY, et al. Among authors: colaiacovo s. J Pediatr Endocrinol Metab. 2021 Aug 5;34(12):1615-1618. doi: 10.1515/jpem-2021-0229. Print 2021 Dec 20. J Pediatr Endocrinol Metab. 2021. PMID: 34348419

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