Nelson-Williams C - Search Results

1

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.

Jin SC, Dong W, Kundishora AJ, Panchagnula S, Moreno-De-Luca A, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, Knight JR, Sullivan W, Duy PQ, DeSpenza T, Reeves BC, Karimy JK, Marlier A, Castaldi C, Tikhonova IR, Li B, Peña HP, Broach JR, Kabachelor EM, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake AT, Goto J, Mangano FT, Johnston JM, Butler WE, Warf BC, Smith ER, Schiff SJ, Limbrick DD Jr, Heuer G, Jackson EM, Iskandar BJ, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan CC, Apuzzo MLJ, DiLuna ML, Hoffman EJ, Sestan N, Ment LR, Alper SL, Bilguvar K, Geschwind DH, Günel M, Lifton RP, Kahle KT. Jin SC, et al. Nat Med. 2020 Nov;26(11):1754-1765. doi: 10.1038/s41591-020-1090-2. Epub 2020 Oct 19. Nat Med. 2020. PMID: 33077954 Free PMC article.

2

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.

Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, Lifton RP. Hansson JH, et al. Nat Genet. 1995 Sep;11(1):76-82. doi: 10.1038/ng0995-76. Nat Genet. 1995. PMID: 7550319

3

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.

Chang SS, Grunder S, Hanukoglu A, Rösler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, Rossier BC, Lifton RP. Chang SS, et al. Nat Genet. 1996 Mar;12(3):248-53. doi: 10.1038/ng0396-248. Nat Genet. 1996. PMID: 8589714

4

A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans.

Gunel M, Awad IA, Finberg K, Anson JA, Steinberg GK, Batjer HH, Kopitnik TA, Morrison L, Giannotta SL, Nelson-Williams C, Lifton RP. Gunel M, et al. N Engl J Med. 1996 Apr 11;334(15):946-51. doi: 10.1056/NEJM199604113341503. N Engl J Med. 1996. PMID: 8596595 Free article.

5

Genetic heterogeneity of inherited cerebral cavernous malformation.

Günel M, Awad IA, Finberg K, Steinberg GK, Craig HD, Cepeda O, Nelson-Williams C, Lifton RP. Günel M, et al. Neurosurgery. 1996 Jun;38(6):1265-71. doi: 10.1097/00006123-199606000-00059. Neurosurgery. 1996. PMID: 8727164

6

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23.

Gharavi AG, Yan Y, Scolari F, Schena FP, Frasca GM, Ghiggeri GM, Cooper K, Amoroso A, Viola BF, Battini G, Caridi G, Canova C, Farhi A, Subramanian V, Nelson-Williams C, Woodford S, Julian BA, Wyatt RJ, Lifton RP. Gharavi AG, et al. Nat Genet. 2000 Nov;26(3):354-7. doi: 10.1038/81677. Nat Genet. 2000. PMID: 11062479

7

KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein.

Gunel M, Laurans MS, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP. Gunel M, et al. Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10677-82. doi: 10.1073/pnas.122354499. Epub 2002 Jul 24. Proc Natl Acad Sci U S A. 2002. PMID: 12140362 Free PMC article.

8

Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus.

Mani A, Meraji SM, Houshyar R, Radhakrishnan J, Mani A, Ahangar M, Rezaie TM, Taghavinejad MA, Broumand B, Zhao H, Nelson-Williams C, Lifton RP. Mani A, et al. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15054-9. doi: 10.1073/pnas.192582999. Epub 2002 Oct 30. Proc Natl Acad Sci U S A. 2002. PMID: 12409608 Free PMC article.

9

WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl- -transporting epithelia.

Choate KA, Kahle KT, Wilson FH, Nelson-Williams C, Lifton RP. Choate KA, et al. Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):663-8. doi: 10.1073/pnas.242728499. Epub 2003 Jan 8. Proc Natl Acad Sci U S A. 2003. PMID: 12522152 Free PMC article.

10

Mutational analysis of 206 families with cavernous malformations.

Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M. Laurans MS, et al. J Neurosurg. 2003 Jul;99(1):38-43. doi: 10.3171/jns.2003.99.1.0038. J Neurosurg. 2003. PMID: 12854741

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