Kohlhase J - Search Results

1

Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.

Surka WS, Kohlhase J, Neunert CE, Schneider DS, Proud VK. Surka WS, et al. Among authors: kohlhase j. Am J Med Genet. 2001 Aug 15;102(3):250-7. doi: 10.1002/1096-8628(20010815)102:3<250::aid-ajmg1479>3.0.co;2-q. Am J Med Genet. 2001. PMID: 11484202

2

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, Seemanova E, Engel W. Kohlhase J, et al. Am J Hum Genet. 1999 Feb;64(2):435-45. doi: 10.1086/302238. Am J Hum Genet. 1999. PMID: 9973281 Free PMC article.

3

Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.

Salerno A, Kohlhase J, Kaplan BS. Salerno A, et al. Among authors: kohlhase j. Pediatr Nephrol. 2000 Jan;14(1):25-8. doi: 10.1007/s004670050006. Pediatr Nephrol. 2000. PMID: 10654325

4

Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome.

Blanck C, Kohlhase J, Engels S, Burfeind P, Engel W, Bottani A, Patel MS, Kroes HY, Cobben JM. Blanck C, et al. Among authors: kohlhase j. J Med Genet. 2000 Apr;37(4):303-7. doi: 10.1136/jmg.37.4.303. J Med Genet. 2000. PMID: 10819639 Free PMC article. No abstract available.

5

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.

6

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W. Kohlhase J, et al. J Med Genet. 2003 Jul;40(7):473-8. doi: 10.1136/jmg.40.7.473. J Med Genet. 2003. PMID: 12843316 Free PMC article.

7

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.

Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Kohlhase J, et al. Nat Genet. 1998 Jan;18(1):81-3. doi: 10.1038/ng0198-81. Nat Genet. 1998. PMID: 9425907

8

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.

Kohlhase J, Liebers M, Backe J, Baumann-Müller A, Bembea M, Destrée A, Gattas M, Grüssner S, Müller T, Mortier G, Skrypnyk C, Yano S, Wirbelauer J, Michaelis RC. Kohlhase J, et al. J Med Genet. 2003 Nov;40(11):e127. doi: 10.1136/jmg.40.11.e127. J Med Genet. 2003. PMID: 14627694 Free PMC article. No abstract available.

9

Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1.

Goodin K, Prucka S, Woolley AL, Kohlhase J, Smith RJ, Grant J, Robin NH. Goodin K, et al. Among authors: kohlhase j. Am J Med Genet A. 2009 Mar;149A(3):535-8. doi: 10.1002/ajmg.a.32673. Am J Med Genet A. 2009. PMID: 19213029 No abstract available.

10

A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype.

Engels S, Kohlhase J, McGaughran J. Engels S, et al. Among authors: kohlhase j. J Med Genet. 2000 Jun;37(6):458-60. doi: 10.1136/jmg.37.6.458. J Med Genet. 2000. PMID: 10928856 Free PMC article. No abstract available.

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