Lorenz B - Search Results

1

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.

Volk AE, Hedergott A, Preising M, Rading S, Fricke J, Herkenrath P, Nürnberg P, Altmüller J, von Ameln S, Lorenz B, Neugebauer A, Karsak M, Kubisch C. Volk AE, et al. Among authors: lorenz b. Hum Genet. 2021 Aug;140(8):1157-1168. doi: 10.1007/s00439-021-02285-0. Epub 2021 May 6. Hum Genet. 2021. PMID: 33959807

2

IRPA scientific newsletter--a new website to integrate data on hereditary retinal disorders.

Preising M, Lorenz B. Preising M, et al. Among authors: lorenz b. Ophthalmic Genet. 1998 Dec;19(4):213-4. doi: 10.1076/opge.19.4.213.2314. Ophthalmic Genet. 1998. PMID: 9895247 No abstract available.

3

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV. Bassi MT, et al. Among authors: lorenz b. Hum Genet. 2001 Jan;108(1):51-4. doi: 10.1007/s004390000440. Hum Genet. 2001. PMID: 11214907

4

A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity.

Golan I, Preising M, Wagener H, Baumert U, Niederdellmann H, Lorenz B, Müssig D. Golan I, et al. Among authors: lorenz b. J Craniofac Genet Dev Biol. 2000 Jul-Sep;20(3):113-20. J Craniofac Genet Dev Biol. 2000. PMID: 11321595

5

Deletion in the OA1 gene in a family with congenital X linked nystagmus.

Preising M, Op de Laak JP, Lorenz B. Preising M, et al. Among authors: lorenz b. Br J Ophthalmol. 2001 Sep;85(9):1098-103. doi: 10.1136/bjo.85.9.1098. Br J Ophthalmol. 2001. PMID: 11520764 Free PMC article.

6

Evidence of intrafamilial variability of CBFA1/RUNX2 expression in cleidocranial dysplasia--a family study.

Golan I, Baumert U, Wagener H, Preising M, Lorenz B, Niederdellmann H, Müssig D. Golan I, et al. Among authors: lorenz b. J Orofac Orthop. 2002 May;63(3):190-8. doi: 10.1007/s00056-002-0123-4. J Orofac Orthop. 2002. PMID: 12132307 English, German.

7

In search for increased prevalence rates of strabismus and microstrabismus in two Bavarian districts, Oberpfalz and Niederbayern, to spot populations for gene identification.

Zitzlsperger M, Salzberger M, Lorenz B, Preising M. Zitzlsperger M, et al. Among authors: lorenz b. Strabismus. 2002 Jun;10(2):163-8. doi: 10.1076/stra.10.2.163.8129. Strabismus. 2002. PMID: 12221496

8

Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.

Schindler S, Friedrich M, Wagener H, Lorenz B, Preising MN. Schindler S, et al. Among authors: lorenz b. J Med Genet. 2002 Oct;39(10):764-6. doi: 10.1136/jmg.39.10.764. J Med Genet. 2002. PMID: 12362036 Free PMC article. No abstract available.

9

CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.

Sitorus R, Ardjo SM, Lorenz B, Preising M. Sitorus R, et al. Among authors: lorenz b. J Med Genet. 2003 Jan;40(1):e9. doi: 10.1136/jmg.40.1.e9. J Med Genet. 2003. PMID: 12525557 Free PMC article. No abstract available.

10

Causes of blindness at the "Wiyata Guna" School for the Blind, Indonesia.

Sitorus R, Preising M, Lorenz B. Sitorus R, et al. Among authors: lorenz b. Br J Ophthalmol. 2003 Sep;87(9):1065-8. doi: 10.1136/bjo.87.9.1065. Br J Ophthalmol. 2003. PMID: 12928266 Free PMC article.

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