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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1949 1
1950 1
1953 3
1954 1
1955 1
1956 6
1957 2
1958 1
1961 4
1962 2
1963 2
1964 1
1965 1
1973 1
1976 1
1979 1
1984 1
1985 2
1986 1
1989 2
1991 1
1992 2
1993 1
1994 3
1995 2
1996 2
1997 3
1998 2
1999 1
2001 1
2002 1
2004 3
2005 4
2006 3
2007 4
2008 3
2009 2
2010 2
2011 2
2012 5
2013 6
2014 10
2015 7
2016 7
2017 6
2018 8
2019 9
2020 22
2021 25
2022 13
2023 7
2024 3

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186 results

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Page 1
Doors Syndrome: Case Report.
Cebeci D, Rıfkı D. Cebeci D, et al. Indian J Dermatol. 2022 Mar-Apr;67(2):161-163. doi: 10.4103/ijd.ijd_676_21. Indian J Dermatol. 2022. PMID: 36092206 Free PMC article.
DOORS syndrome is an autosomal recessive genetic neurometabolic disorder. ...Here, we discuss a 23-year-old male patient who applied to our clinic with anonychia of the toes and was diagnosed with DOORS syndrome with other accompanying clinical symptom …
DOORS syndrome is an autosomal recessive genetic neurometabolic disorder. ...Here, we discuss a 23-year-old male patient who a …
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 …
Correction: 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):237. doi: 10.1038/s41436-020-00969-y. Genet Med. 2021. PMID: 32934366 Free article. No abstract available.
TBC1D24-Related Disorders.
Mucha BE, Hennekam RCM, Sisodiya S, Campeau PM. Mucha BE, et al. 2015 Feb 26 [updated 2017 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Feb 26 [updated 2017 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25719194 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). ...DIAGNOSIS/TESTING …
CLINICAL CHARACTERISTICS: TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized …
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
We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. ...We briefly discuss the heterogeneity of the DOORS syn …
We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 pati …
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 …
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 …
The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. Campeau PM, et al. Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29. Lancet Neurol. 2014. PMID: 24291220 Free PMC article.
BACKGROUND: Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. ...INTERPRETATION: Our findings suggest that mutations in TBC1D24 seem to be an important cause of DO …
BACKGROUND: Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal r …
Clinical Issues-April 2022.
Wood A. Wood A. AORN J. 2022 Apr;115(4):373-380. doi: 10.1002/aorn.13652. AORN J. 2022. PMID: 35333383
Perioperative care of the patient with alpha-gal syndrome Key words: alpha-gal syndrome (AGS), red meat allergy, allergic reaction, mammalian-derived ingredients, gelatin. ...Personnel traffic into the OR Key words: OR traffic, door openings, airflow, environmental …
Perioperative care of the patient with alpha-gal syndrome Key words: alpha-gal syndrome (AGS), red meat allergy, allergic reac …
186 results