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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Lines MA, Goldenberg P, Wong A, Srivastava S, Bayat A, Hove H, Karstensen HG, Anyane-Yeboa K, Liao J, Jiang N, May A, Guzman E, Morleo M, D'Arrigo S, Ciaccio C, Pantaleoni C, Castello R; TUDP Study Group; McKee S, Ong J, Zibdeh-Lough H, Tran-Mau-Them F, Gerasimenko A, Heron D, Keren B, Margot H, de Sainte Agathe JM, Burglen L, Voets T, Vriens J, Innes AM, Dyment DA. Lines MA, et al. Among authors: hove h. Am J Med Genet A. 2022 Jun;188(6):1667-1675. doi: 10.1002/ajmg.a.62673. Epub 2022 Feb 10. Am J Med Genet A. 2022. PMID: 35146895
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. Weiss K, et al. Among authors: hove h. Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7. Genet Med. 2020. PMID: 31388190 Free PMC article.
Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome.
Barington M, Bak M, Kjartansdóttir KR, Hansen TVO, Birkedal U, Østergaard E, Hove HB. Barington M, et al. Among authors: hove hb. Am J Med Genet A. 2024 Apr 11:e63581. doi: 10.1002/ajmg.a.63581. Online ahead of print. Am J Med Genet A. 2024. PMID: 38600862
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Vergano SAS, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Feldman HB, Campeau PM, Muenke M, Wade PA, Lachlan K. Weiss K, et al. Among authors: hove h. Genet Med. 2020 Mar;22(3):669. doi: 10.1038/s41436-019-0727-3. Genet Med. 2020. PMID: 31844176 Free article.
Primrose syndrome: Characterization of the phenotype in 42 patients.
Melis D, Carvalho D, Barbaro-Dieber T, Espay AJ, Gambello MJ, Gener B, Gerkes E, Hitzert MM, Hove HB, Jansen S, Jira PE, Lachlan K, Menke LA, Narayanan V, Ortiz D, Overwater E, Posmyk R, Ramsey K, Rossi A, Sandoval RL, Stumpel C, Stuurman KE, Cordeddu V, Turnpenny P, Strisciuglio P, Tartaglia M, Unger S, Waters T, Turnbull C, Hennekam RC. Melis D, et al. Clin Genet. 2020 Jun;97(6):890-901. doi: 10.1111/cge.13749. Epub 2020 Apr 20. Clin Genet. 2020. PMID: 32266967 Free PMC article.
Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register-based cohort study.
Kenborg L, Andersen EW, Duun-Henriksen AK, Jepsen JRM, Doser K, Dalton SO, Bidstrup PE, Krøyer A, Frederiksen LE, Johansen C, Østergaard JR, Hove H, Sørensen SA, Riccardi VM, Mulvihill JJ, Winther JF. Kenborg L, et al. Among authors: hove h. Am J Med Genet A. 2021 Dec;185(12):3706-3716. doi: 10.1002/ajmg.a.62436. Epub 2021 Jul 29. Am J Med Genet A. 2021. PMID: 34327813
145 results