Benke PJ - Search Results

1

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.

Su M, Benke PJ, Bademci G, Cengiz FB, Ouyang X, Peng J, Casas CE, Tekin M, Fan YS. Su M, et al. Among authors: benke pj. Mol Cytogenet. 2018 Aug 1;11:43. doi: 10.1186/s13039-018-0390-4. eCollection 2018. Mol Cytogenet. 2018. PMID: 30123325 Free PMC article.

2

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

Fan YS, Jayakar P, Zhu H, Barbouth D, Sacharow S, Morales A, Carver V, Benke P, Mundy P, Elsas LJ. Fan YS, et al. Hum Mutat. 2007 Nov;28(11):1124-32. doi: 10.1002/humu.20581. Hum Mutat. 2007. PMID: 17621639

3

22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.

Falah N, Posey JE, Thorson W, Benke P, Tekin M, Tarshish B, Lupski JR, Harel T. Falah N, et al. Am J Med Genet A. 2017 Apr;173(4):1066-1070. doi: 10.1002/ajmg.a.38109. Am J Med Genet A. 2017. PMID: 28328136 Free PMC article.

4

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O; Undiagnosed Diseases Network; Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Ravenscroft TA, et al. Among authors: benke pj. Genet Med. 2021 Oct;23(10):1889-1900. doi: 10.1038/s41436-021-01216-8. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113007 Free PMC article.

5

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: benke pj. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.

6

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H; Undiagnosed Diseases Network; Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. Ward SK, et al. Among authors: benke pj. Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37743782

7

46,XX sex reversal with partial duplication of chromosome arm 22q.

Seeherunvong T, Perera EM, Bao Y, Benke PJ, Benigno A, Donahue RP, Berkovitz GD. Seeherunvong T, et al. Among authors: benke pj. Am J Med Genet A. 2004 Jun 1;127A(2):149-51. doi: 10.1002/ajmg.a.20630. Am J Med Genet A. 2004. PMID: 15108202

8

Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.

Simon MT, Eftekharian SS, Stover AE, Osborne AF, Braffman BH, Chang RC, Wang RY, Steenari MR, Tang S, Hwu PW, Taft RJ, Benke PJ, Abdenur JE. Simon MT, et al. Among authors: benke pj. Mol Genet Metab. 2019 Jan;126(1):53-63. doi: 10.1016/j.ymgme.2018.11.001. Epub 2018 Nov 8. Mol Genet Metab. 2019. PMID: 30473481 Free PMC article.

9

Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH.

Yu S, Barbouth D, Benke PJ, Warburton PE, Fan YS. Yu S, et al. Among authors: benke pj. Cytogenet Genome Res. 2007;116(1-2):141-5. doi: 10.1159/000097434. Cytogenet Genome Res. 2007. PMID: 17268194

10

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.

Benke PJ, Hidalgo RJ, Braffman BH, Jans J, Gassen KLIV, Sunbul R, El-Hattab AW. Benke PJ, et al. J Child Neurol. 2017 May;32(6):543-549. doi: 10.1177/0883073817690094. Epub 2017 Jan 31. J Child Neurol. 2017. PMID: 28135894

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