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Year Number of Results
1975 1
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1984 2
1986 1
1987 1
1988 2
1990 1
1993 2
1994 2
1995 3
1996 1
1997 1
1998 1
2000 1
2002 2
2003 2
2005 1
2006 1
2007 4
2008 2
2009 2
2011 1
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2014 8
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2016 4
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2022 3
2024 0

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Page 1
Unresolved questions regarding human hereditary deafness.
Rehman AU, Friedman TB, Griffith AJ. Rehman AU, et al. Oral Dis. 2017 Jul;23(5):551-558. doi: 10.1111/odi.12516. Epub 2016 Jul 11. Oral Dis. 2017. PMID: 27259978 Free PMC article. Review.
At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or DOORS syndrome (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail …
At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epi …
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, Tardif J, Dieterich K, Dabir T, Vind-Kezunovic D, White SM, Zadori D, Castiglioni C, Tranebjærg L, Tørring PM, Blair E, Wisniewska M, Camurri MV, van Bever Y, Molidperee S, Taylor J, Dionne-Laporte A, Sisodiya SM, Hennekam RCM, Campeau PM. Beauregard-Lacroix E, et al. Genet Med. 2021 Jan;23(1):149-154. doi: 10.1038/s41436-020-00950-9. Epub 2020 Sep 2. Genet Med. 2021. PMID: 32873933 Free article.
The aim of the study was to identify a genetic cause in families with DOORS syndrome and without a TBC1D24 variant. METHODS: Exome or Sanger sequencing was performed in individuals with a clinical diagnosis of DOORS syndrome without TBC1D24 variants. . …
The aim of the study was to identify a genetic cause in families with DOORS syndrome and without a TBC1D24 variant. METHODS: E …
DOOR syndrome.
Girish M, Mujawar N, Salodkar A. Girish M, et al. Indian Pediatr. 2011 Jun;48(6):479-81. doi: 10.1007/s13312-011-0068-z. Indian Pediatr. 2011. PMID: 21743113
DOOR syndrome is a rare multisystem genetic disorder, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy, and mental retardation. ...
DOOR syndrome is a rare multisystem genetic disorder, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy,
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Gao X, Dai P, Yuan YY. Gao X, et al. Hum Genet. 2022 Apr;141(3-4):821-838. doi: 10.1007/s00439-021-02310-2. Epub 2021 Jul 7. Hum Genet. 2022. PMID: 34232384 Review.
Deafness and onychodystrophy syndromes are a group of phenotypically overlapping syndromes, which include DDOD syndrome (dominant deafness-onychodystrophy), DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures) and Zimmermann-La …
Deafness and onychodystrophy syndromes are a group of phenotypically overlapping syndromes, which include DDOD syndrome (dominant deafness-o …
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
Campeau PM, Hennekam RC; DOORS syndrome collaborative group. Campeau PM, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):327-32. doi: 10.1002/ajmg.c.31412. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169651
DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. ...We review here the
DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineu
Addictive and other mental disorders: a call for a standardized definition of dual disorders.
Szerman N, Torrens M, Maldonado R, Balhara YPS, Salom C, Maremmani I, Sher L, Didia-Attas J, Chen J, Baler R; World Association on Dual Disorders (WADD). Szerman N, et al. Transl Psychiatry. 2022 Oct 13;12(1):446. doi: 10.1038/s41398-022-02212-5. Transl Psychiatry. 2022. PMID: 36229453 Free PMC article. Review.
The lack of a standardized term adds confusion, fuels stigma, and contributes to a "wrong door syndrome" that captures the difficulty of not only diagnosing but also treating addictive and other mental disorders in an integrated manner. ...
The lack of a standardized term adds confusion, fuels stigma, and contributes to a "wrong door syndrome" that captures the dif …
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.
Kosho T, Miyake N, Carey JC. Kosho T, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):241-51. doi: 10.1002/ajmg.c.31415. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169878 Review.
Mutations in another BAF complex gene (SMARCA2) and (TBC1D24) were found to cause clinically similar conditions with ID, Nicolaides-Baraitser syndrome and DOORS syndrome, respectively. Also, ADNP was found to be mutated in an autism/ID syndrome. ...
Mutations in another BAF complex gene (SMARCA2) and (TBC1D24) were found to cause clinically similar conditions with ID, Nicolaides-Baraitse …
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature.
Danarti R, Rahmayani S, Wirohadidjojo YW, Chen W. Danarti R, et al. Eur J Dermatol. 2020 Aug 1;30(4):404-407. doi: 10.1684/ejd.2020.3850. Eur J Dermatol. 2020. PMID: 32969800 Review.
BACKGROUND: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) is a rare multisystem genetic disorder, mainly characterized by sensorineural deafness, shortened terminal phalanges with small nails of hands and fee …
BACKGROUND: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) is a rare …
Putting on the Same Shoes: Lived Experiences of Women Who Are Reincarcerated.
Blair-Lawton D, Mordoch E, Chernomas W. Blair-Lawton D, et al. J Forensic Nurs. 2020 Apr/Jun;16(2):99-107. doi: 10.1097/JFN.0000000000000276. J Forensic Nurs. 2020. PMID: 32358458
Many of these women cycle in and out of jail and experience the "revolving door syndrome," characterized by release, reimprisonment, and subsequent rerelease into the community. ...
Many of these women cycle in and out of jail and experience the "revolving door syndrome," characterized by release, reimpriso …
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Salian S, Benkerroum H, Nguyen TTM, Nampoothiri S, Kinoshita T, Félix TM, Stewart F, Sisodiya SM, Murakami Y, Campeau PM. Salian S, et al. Hum Genet. 2021 Jun;140(6):879-884. doi: 10.1007/s00439-020-02251-2. Epub 2021 Jan 2. Hum Genet. 2021. PMID: 33386993
DOORS syndrome is characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. ...We thus describe the causal role of a novel disease gene, PIGF, in DOORS syndrome and highlight the overlap between this condition a
DOORS syndrome is characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. ...We thu
66 results