Lorenz B - Search Results

1

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, Janecke A, Kling R, König R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D. Tasse C, et al. Among authors: lorenz b. Eur J Med Genet. 2005 Oct-Dec;48(4):397-411. doi: 10.1016/j.ejmg.2005.04.015. Epub 2005 Jun 8. Eur J Med Genet. 2005. PMID: 16378924

2

No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS).

Wabbels BK, Lorenz B, Kohlhase J. Wabbels BK, et al. Among authors: lorenz b. Am J Med Genet A. 2004 Dec 1;131(2):216-8. doi: 10.1002/ajmg.a.30321. Am J Med Genet A. 2004. PMID: 15386473 No abstract available.

3

[Clinical and molecular genetic findings in isolated sporadic Duane syndrome].

Wabbels BK, Kohlhase J, Lorenz B. Wabbels BK, et al. Among authors: lorenz b. Klin Monbl Augenheilkd. 2004 Oct;221(10):849-53. doi: 10.1055/s-2004-813662. Klin Monbl Augenheilkd. 2004. PMID: 15499520 Clinical Trial. German.

4

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A. von Brederlow B, et al. Among authors: lorenz b. Hum Mutat. 2002 Mar;19(3):268-73. doi: 10.1002/humu.10049. Hum Mutat. 2002. PMID: 11857743

5

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR. Ansari M, et al. Among authors: lorenz b. PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016. PLoS One. 2016. PMID: 27124303 Free PMC article.

6

Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.

Gehrig A, White K, Lorenz B, Andrassi M, Clemens S, Weber BH. Gehrig A, et al. Among authors: lorenz b. Clin Genet. 1999 Jun;55(6):461-5. doi: 10.1034/j.1399-0004.1999.550611.x. Clin Genet. 1999. PMID: 10450864

7

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.

Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH. Krämer F, et al. Among authors: lorenz b. Eur J Hum Genet. 2000 Apr;8(4):286-92. doi: 10.1038/sj.ejhg.5200447. Eur J Hum Genet. 2000. PMID: 10854112

8

Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.

Lohmann DR, Gerick M, Brandt B, Oelschläger U, Lorenz B, Passarge E, Horsthemke B. Lohmann DR, et al. Among authors: lorenz b. Am J Hum Genet. 1997 Aug;61(2):282-94. doi: 10.1086/514845. Am J Hum Genet. 1997. PMID: 9311732 Free PMC article.

9

Positional cloning of the gene associated with X-linked juvenile retinoschisis.

Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH. Sauer CG, et al. Among authors: lorenz b. Nat Genet. 1997 Oct;17(2):164-70. doi: 10.1038/ng1097-164. Nat Genet. 1997. PMID: 9326935

10

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

Rivera A, White K, Stöhr H, Steiner K, Hemmrich N, Grimm T, Jurklies B, Lorenz B, Scholl HP, Apfelstedt-Sylla E, Weber BH. Rivera A, et al. Among authors: lorenz b. Am J Hum Genet. 2000 Oct;67(4):800-13. doi: 10.1086/303090. Epub 2000 Aug 24. Am J Hum Genet. 2000. PMID: 10958763 Free PMC article.

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