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

Year Number of Results
1989 2
1992 1
1995 1
1996 2
1999 1
2000 1
2001 2
2005 1
2008 1
2009 1
2011 1
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2021 1
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Page 1
VACTERL/VATER Association.
Solomon BD. Solomon BD. Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. Orphanet J Rare Dis. 2011. PMID: 21846383 Free PMC article. Review.
This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral syndrome, Opitz G/BBB syndrome, Pall …
This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 s …
Townes-Brocks syndrome.
Powell CM, Michaelis RC. Powell CM, et al. J Med Genet. 1999 Feb;36(2):89-93. J Med Genet. 1999. PMID: 10051003 Free PMC article. Review.
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malform …
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Maj …
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.
Wang Z, Sun Z, Diao Y, Wang Z, Yang X, Jiang B, Wu Y, Liu G. Wang Z, et al. Orphanet J Rare Dis. 2023 Aug 29;18(1):250. doi: 10.1186/s13023-023-02874-4. Orphanet J Rare Dis. 2023. PMID: 37644569 Free PMC article. Review.
BACKGROUND: Townes-Brocks syndrome is a rare autosomal dominant genetic syndrome caused by mutations in SALL1. The clinical features of Townes-Brocks syndrome are highly heterogonous. Identification of new SALL1 mutations and study of the …
BACKGROUND: Townes-Brocks syndrome is a rare autosomal dominant genetic syndrome caused by mutations in SALL1. The clin …
Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.
Beaudoux O, Lebre AS, Doco Fenzy M, Spodenkiewicz M, Canivet E, Colosio C, Poirsier C. Beaudoux O, et al. Am J Med Genet A. 2021 Mar;185(3):937-944. doi: 10.1002/ajmg.a.62050. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33438842 Review.
Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in SALL1 gene and initially characterized by the triad of anorectal, thumb, and ear malformations. ...
Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in SALL1 gene a …
Review of accessory tragus with highlights of its associated syndromes.
Bahrani B, Khachemoune A. Bahrani B, et al. Int J Dermatol. 2014 Dec;53(12):1442-6. doi: 10.1111/ijd.12369. Epub 2014 Sep 30. Int J Dermatol. 2014. PMID: 25266223 Review.
It has been shown to be associated with Goldenhar syndrome, Townes-Brocks syndrome, Treacher-Collins syndrome, VACTERL syndrome, and Wolf-Hirschhron syndrome. ...
It has been shown to be associated with Goldenhar syndrome, Townes-Brocks syndrome, Treacher-Collins syndrome, VACTERL …
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.
Keegan CE, Mulliken JB, Wu BL, Korf BR. Keegan CE, et al. Genet Med. 2001 Jul-Aug;3(4):310-3. doi: 10.1097/00125817-200107000-00007. Genet Med. 2001. PMID: 11478532 Free article. Review.
PURPOSE: It can be difficult to differentiate clinically between hemifacial microsomia (HFM) and Townes-Brocks syndrome (TBS). The distinction is important because TBS is inherited as an autosomal dominant trait, whereas HFM is sporadic. ...
PURPOSE: It can be difficult to differentiate clinically between hemifacial microsomia (HFM) and Townes-Brocks syndrome …
Oculoauriculovertebral spectrum: an updated critique.
Cohen MM Jr, Rollnick BR, Kaye CI. Cohen MM Jr, et al. Cleft Palate J. 1989 Oct;26(4):276-86. Cleft Palate J. 1989. PMID: 2680167 Review.
A number of conditions are discussed that are commonly differentiated from oculoauriculovertebral spectrum but have overlapping relationships, in some instances, with frontonasal dysplasia, branchio-oto-renal (BOR) syndrome, Townes-Brocks syndrome, Wildervanc …
A number of conditions are discussed that are commonly differentiated from oculoauriculovertebral spectrum but have overlapping relationship …
SALL1 mutations in Townes-Brocks syndrome and related disorders.
Kohlhase J. Kohlhase J. Hum Mutat. 2000 Dec;16(6):460-6. doi: 10.1002/1098-1004(200012)16:6<460::AID-HUMU2>3.0.CO;2-4. Hum Mutat. 2000. PMID: 11102974 Review.
Townes-Brocks syndrome (TBS) is a rare autosomal dominantly inherited malformation syndrome characterized by anal, renal, limb, and ear anomalies. ...
Townes-Brocks syndrome (TBS) is a rare autosomal dominantly inherited malformation syndrome characterized by anal, rena …
Townes-Brocks syndrome. Report of a case and review of the literature.
Ferraz FG, Nunes L, Ferraz ME, Sousa JP, Santos M, Carvalho C, Maroteaux P. Ferraz FG, et al. Ann Genet. 1989;32(2):120-3. Ann Genet. 1989. PMID: 2667456 Review.
The authors report a new case of Townes-Brocks syndrome with cardiac defect, ossicular anomalies and dominant transmission. ...
The authors report a new case of Townes-Brocks syndrome with cardiac defect, ossicular anomalies and dominant transmiss …
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.
Miller EM, Hopkin R, Bao L, Ware SM. Miller EM, et al. Am J Med Genet A. 2012 Mar;158A(3):533-40. doi: 10.1002/ajmg.a.34426. Epub 2012 Feb 3. Am J Med Genet A. 2012. PMID: 22308078 Review.
Townes-Brocks syndrome (TBS) is a well-described genetic syndrome characterized by anal, ear, and thumb anomalies and variable expressivity. ...
Townes-Brocks syndrome (TBS) is a well-described genetic syndrome characterized by anal, ear, and thumb anomalies and v …
20 results