Lam BL - Search Results

1

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.

Hirsch Y, Zeevi DA, Lam BL, Scher SY, Bringer R, Cherki B, Cohen CC, Muallem H, Chiang JP, Pantrangi M, Ekstein J, Johansson MM. Hirsch Y, et al. Among authors: lam bl. Hum Genome Var. 2019 Sep 12;6:45. doi: 10.1038/s41439-019-0076-4. eCollection 2019. Hum Genome Var. 2019. PMID: 31645983 Free PMC article.

2

X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation.

Smith LM, Cernichiaro-Espinosa LA, McKeown CA, Tekin M, Lam BL, Chiang J, Russell JF, Berrocal AM. Smith LM, et al. Among authors: lam bl. Ophthalmic Genet. 2020 Feb;41(1):57-62. doi: 10.1080/13816810.2020.1723115. Epub 2020 Mar 3. Ophthalmic Genet. 2020. PMID: 32124668

3

Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.

Langlo CS, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Erker LR, Parker M, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Wilson DJ, Pennesi ME, Lam BL, Chiang J, Chulay JD, Dubra A, Hauswirth WW, Carroll J; ACHM-001 Study Group. Langlo CS, et al. Among authors: lam bl. Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):3984-95. doi: 10.1167/iovs.16-19313. Invest Ophthalmol Vis Sci. 2016. PMID: 27479814 Free PMC article.

4

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.

Züchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, Edwards YJ, Cai G, Peter I, Seo D, Buxbaum JD, Haines JL, Blanton S, Young J, Alfonso E, Vance JM, Lam BL, Peričak-Vance MA. Züchner S, et al. Among authors: lam bl. Am J Hum Genet. 2011 Feb 11;88(2):201-6. doi: 10.1016/j.ajhg.2011.01.001. Epub 2011 Feb 3. Am J Hum Genet. 2011. PMID: 21295283 Free PMC article.

5

Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1).

Lam BL, Fingert JH, Shutt BC, Singleton EM, Merin LM, Brown HH, Sheffield VC, Stone EM. Lam BL, et al. Ophthalmic Genet. 1997 Dec;18(4):175-84. doi: 10.3109/13816819709041432. Ophthalmic Genet. 1997. PMID: 9457748

6

The a-wave latency in control subjects and patients with retinal diseases.

Hamasaki DI, Liu M, Qiu H, Fujiwara E, Lam BL. Hamasaki DI, et al. Among authors: lam bl. Jpn J Ophthalmol. 2002 Jul-Aug;46(4):433-42. doi: 10.1016/s0021-5155(02)00504-x. Jpn J Ophthalmol. 2002. PMID: 12225823

7

Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa.

Lam BL, Züchner SL, Dallman J, Wen R, Alfonso EC, Vance JM, Peričak-Vance MA. Lam BL, et al. Adv Exp Med Biol. 2014;801:165-70. doi: 10.1007/978-1-4614-3209-8_21. Adv Exp Med Biol. 2014. PMID: 24664694

8

Successes and Challenges of Retinal Implants for Profound Visual Loss From Outer Retinal Degeneration.

Lam BL, Gregori NZ. Lam BL, et al. JAMA Ophthalmol. 2019 Aug 1;137(8):903-904. doi: 10.1001/jamaophthalmol.2019.1057. JAMA Ophthalmol. 2019. PMID: 31145438 No abstract available.

9

Sixth Cranial Nerve Palsy as the Presenting Sign of Metastatic Cholangiocarcinoma.

Fowler BJ, Lam BL. Fowler BJ, et al. Among authors: lam bl. Int Med Case Rep J. 2020 Nov 23;13:667-671. doi: 10.2147/IMCRJ.S272818. eCollection 2020. Int Med Case Rep J. 2020. PMID: 33262662 Free PMC article.

10

Optic nerve involvement from Pseudomonas aeruginosa -associated skull base osteomyelitis.

Winter TW, Anwar Z, Lam BL, Schatz NJ, Sternau LL, Guy JR. Winter TW, et al. Among authors: lam bl. JAMA Ophthalmol. 2013 Feb;131(2):253-5. doi: 10.1001/jamaophthalmol.2013.580. JAMA Ophthalmol. 2013. PMID: 23411899 No abstract available.

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