| 1 |
Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome. ( 29395072
)
|
Bozal-Basterra L....Barrio R.
|
2018 |
| 2 |
On-Top Index Pollicization After a Partial Amputation of a Syndactylized Hypoplastic Thumb in a Patient With Townes-Brocks Syndrome. ( 28509696
)
|
Lorencin M....Bulic K.
|
2017 |
| 3 |
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. ( 28054444
)
|
Webb B.D....Schadt E.E.
|
2017 |
| 4 |
Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. ( 27073431
)
|
Lin F.J....Jiang G.R.
|
2016 |
| 5 |
Deletion upstream of SALL1 producing Townes-Brocks syndrome. ( 27277004
)
|
Stevens C.A....May K.M.
|
2016 |
| 6 |
A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury. ( 26311113
)
|
Hirsch S....Rauchman M.
|
2015 |
| 7 |
Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome. ( 25192472
)
|
Eker H.K....Balasar O.
|
2014 |
| 8 |
Endocrine abnormalities in Townes-Brocks syndrome. ( 23894113
)
|
Lawrence C....Bay C.
|
2013 |
| 9 |
Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome. ( 22228756
)
|
Harrison S.J....Monaghan A.P.
|
2012 |
| 10 |
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome. ( 23716951
)
|
Babu T.A....Balachandran S.
|
2012 |
| 11 |
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. ( 22308078
)
|
Miller E.M....Ware S.M.
|
2012 |
| 12 |
Phenotypic variability in a family with Townes-Brocks syndrome. ( 20520617
)
|
Sudo Y....Hayasaka K.
|
2010 |
| 13 |
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. ( 21253317
)
|
Choi W.I....Oh S.H.
|
2010 |
| 14 |
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly. ( 19291771
)
|
van den Akker P.C....van Essen A.J.
|
2009 |
| 15 |
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. ( 19737635
)
|
van Bever Y....Dooijes D.
|
2009 |
| 16 |
Townes-Brocks syndrome--airway management conditions improve with age: report of follow up of a single case. ( 19236659
)
|
Umesh G....Prabhu R.
|
2009 |
| 17 |
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. ( 19204018
)
|
Faguer S....Chauveau D.
|
2009 |
| 18 |
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. ( 20003547
)
|
Bardakjian T.M....Biesecker L.G.
|
2009 |
| 19 |
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. ( 18280297
)
|
Liang Y....Cai W.
|
2008 |
| 20 |
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. ( 18470945
)
|
Kiefer S.M....Rauchman M.
|
2008 |
| 21 |
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia. ( 18813423
)
|
Bhat R.Y....Sen S.
|
2008 |
| 22 |
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). ( 19005989
)
|
Barry J.S....Reddy M.A.
|
2008 |
| 23 |
Mouse homolog of SALL1, a causative gene for Townes-Brocks syndrome, binds to A/T-rich sequences in pericentric heterochromatin via its C-terminal zinc finger domains. ( 17295837
)
|
Yamashita K....Nishinakamura R.
|
2007 |
| 24 |
Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome? ( 17668723
)
|
Unuigbe E.I....Onuora V.C.
|
2007 |
| 25 |
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? ( 17910067
)
|
Reardon W....Kohlhase J.
|
2007 |
| 26 |
Townes-Brocks syndrome with hypothyroidism. ( 17351307
)
|
Goswami V....Dubey N.K.
|
2007 |
| 27 |
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. ( 17221874
)
|
Botzenhart E.M....Kohlhase J.
|
2007 |
| 28 |
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. ( 16429401
)
|
Borozdin W....Kohlhase J.
|
2006 |
| 29 |
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. ( 16470706
)
|
Walter K.N....Kohlhase J.
|
2006 |
| 30 |
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. ( 16892410
)
|
BAPhm J....Kohlhase J.
|
2006 |
| 31 |
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. ( 16088922
)
|
Botzenhart E.M....Kohlhase J.
|
2005 |
| 32 |
Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. ( 15158448
)
|
Sato A....Nishinakamura R.
|
2004 |
| 33 |
|
Priya ....Malhotra A.K.
|
2004 |
| 34 |
The conserved glutamine-rich region of chick csal1 and csal3 mediates protein interactions with other spalt family members. Implications for Townes-Brocks syndrome. ( 12482848
)
|
Sweetman D....Munsterberg A.
|
2003 |
| 35 |
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. ( 12915476
)
|
Kiefer S.M....Rauchman M.
|
2003 |
| 36 |
Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes. ( 12925729
)
|
Dong P.D....Boekhoff-Falk G.
|
2003 |
| 37 |
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. ( 14627694
)
|
Kohlhase J....Michaelis R.C.
|
2003 |
| 38 |
Somatic mosaicism and variable expression of Townes-Brocks syndrome. ( 12210359
)
|
Devriendt K....Liebers M.
|
2002 |
| 39 |
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. ( 11478532
)
|
Keegan C.E....Korf B.R.
|
2001 |
| 40 |
Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome. ( 11404093
)
|
Buck A....Kohlhase J.
|
2001 |
| 41 |
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. ( 11484202
)
|
Surka W.S....Proud V.K.
|
2001 |
| 42 |
SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. ( 11751684
)
|
Netzer C....Bohlander S.K.
|
2001 |
| 43 |
SALL1 mutations in Townes-Brocks syndrome and related disorders. ( 11102974
)
|
Kohlhase J.
|
2000 |
| 44 |
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. ( 10819639
)
|
Blanck C....Cobben J.M.
|
2000 |
| 45 |
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. ( 10654325
)
|
Salerno A....Kaplan B.S.
|
2000 |
| 46 |
|
Powell C.M....Michaelis R.C.
|
1999 |
| 47 |
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. ( 9973281
)
|
Kohlhase J....Engel W.
|
1999 |
| 48 |
Two cases of Townes-Brocks syndrome. ( 10631923
)
|
Doray B....Stoll C.
|
1999 |
| 49 |
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. ( 10533063
)
|
Marlin S....Petit C.
|
1999 |
| 50 |
Two cases of Townes-Brocks syndrome with previously undescribed anomalies. ( 9823498
)
|
Marlin S....Petit C.
|
1998 |
Rare renal diseases
