Repnikova E - Search Results

1

Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia.

Repnikova E, Roberts J, Kats A, Habeebu S, Schwager C, Joyce J, Manalang M, Amudhavalli SM. Repnikova E, et al. Clin Genet. 2018 Dec;94(6):564-568. doi: 10.1111/cge.13431. Epub 2018 Sep 7. Clin Genet. 2018. PMID: 30084132

2

Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.

Repnikova EA, Astbury C, Reshmi SC, Ramsey SN, Atkin JF, Thrush DL, Mitchell AL, Pyatt RE, Reber K, Slavin T, Gastier-Foster JM. Repnikova EA, et al. Am J Med Genet A. 2012 Aug;158A(8):1924-33. doi: 10.1002/ajmg.a.35477. Epub 2012 Jul 11. Am J Med Genet A. 2012. PMID: 22786685

3

Expanding the phenotype of feingold syndrome-2.

Grote LE, Repnikova EA, Amudhavalli SM. Grote LE, et al. Among authors: repnikova ea. Am J Med Genet A. 2015 Dec;167A(12):3219-25. doi: 10.1002/ajmg.a.37368. Epub 2015 Sep 11. Am J Med Genet A. 2015. PMID: 26360630

4

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.

Cadieux-Dion M, Safina NP, Engleman K, Saunders C, Repnikova E, Raje N, Canty K, Farrow E, Miller N, Zellmer L, Thiffault I. Cadieux-Dion M, et al. Among authors: repnikova e. BMC Med Genet. 2018 Mar 9;19(1):41. doi: 10.1186/s12881-018-0556-2. BMC Med Genet. 2018. PMID: 29523099 Free PMC article.

5

Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations.

Roberts J, Lyalin D, Tosatto N, Rana P, Fadoul H, Welsh H, Zhang L, Cooley L, Repnikova E. Roberts J, et al. Among authors: repnikova e. Am J Med Genet A. 2018 Sep;176(9):2017-2023. doi: 10.1002/ajmg.a.40428. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055081

6

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A. Bhoj EJ, et al. Among authors: repnikova e. Eur J Med Genet. 2019 Dec;62(12):103588. doi: 10.1016/j.ejmg.2018.11.022. Epub 2018 Nov 22. Eur J Med Genet. 2019. PMID: 30472488 Free PMC article.

7

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

Repnikova EA, Lyalin DA, McDonald K, Astbury C, Hansen-Kiss E, Cooley LD, Pfau R, Herman GE, Pyatt RE, Hickey SE. Repnikova EA, et al. Eur J Med Genet. 2020 Jan;63(1):103636. doi: 10.1016/j.ejmg.2019.02.008. Epub 2019 Mar 2. Eur J Med Genet. 2020. PMID: 30836150

8

Clinical and molecular characterization of novel deletions causing epsilon gamma delta beta thalassemia: Report of two cases.

Repnikova E, Roberts J, Mc Dermott S, Farooqi MS, Iqbal NT, Silvey M, Nolen J, Taboada E, Li W. Repnikova E, et al. Pathol Res Pract. 2019 Oct;215(10):152578. doi: 10.1016/j.prp.2019.152578. Epub 2019 Aug 5. Pathol Res Pract. 2019. PMID: 31451289

9

Application of 2016 WHO classification in the diagnosis of paediatric high-grade MYC-negative mature B-cell lymphoma with Burkitt-like morphological features.

Zhang L, Brown LE, Bowen LM, McCarthy LC, Cooley LD, Repnikova E, Gener MA, Garola R, August KJ, Hays JA, Zwick DL, Li W. Zhang L, et al. Among authors: repnikova e. J Clin Pathol. 2020 Sep;73(9):563-570. doi: 10.1136/jclinpath-2019-206267. Epub 2020 Jan 21. J Clin Pathol. 2020. PMID: 31964683

10

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.

Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, M Amudhavalli S, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E, Cao Y. Uguen K, et al. Among authors: repnikova e. Clin Genet. 2021 Oct;100(4):386-395. doi: 10.1111/cge.14015. Epub 2021 Jun 28. Clin Genet. 2021. PMID: 34164801

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