Dobyns WB - Search Results

1

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. Mak CCY, et al. Among authors: dobyns wb. Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379. Brain. 2020. PMID: 31834374 Free PMC article.

2

Causal heterogeneity in isolated lissencephaly.

Dobyns WB, Elias ER, Newlin AC, Pagon RA, Ledbetter DH. Dobyns WB, et al. Neurology. 1992 Jul;42(7):1375-88. doi: 10.1212/wnl.42.7.1375. Neurology. 1992. PMID: 1620349

3

Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy.

Pavone L, Curatolo P, Rizzo R, Micali G, Incorpora G, Garg BP, Dunn DW, Dobyns WB. Pavone L, et al. Among authors: dobyns wb. Neurology. 1991 Feb;41(2 ( Pt 1)):266-71. doi: 10.1212/wnl.41.2_part_1.266. Neurology. 1991. PMID: 1992373 Review.

4

Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.

Ramer JC, Lin AE, Dobyns WB, Winter R, Aymé S, Pallotta R, Ladda RL. Ramer JC, et al. Among authors: dobyns wb. Am J Med Genet. 1995 Jul 3;57(3):403-9. doi: 10.1002/ajmg.1320570308. Am J Med Genet. 1995. PMID: 7545868 Review.

5

Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.

Dobyns WB, Guerrini R, Czapansky-Beilman DK, Pierpont ME, Breningstall G, Yock DH Jr, Bonanni P, Truwit CL. Dobyns WB, et al. Neurology. 1997 Oct;49(4):1042-7. doi: 10.1212/wnl.49.4.1042. Neurology. 1997. PMID: 9339687 Review.

6

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.

Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ. Dobyns WB, et al. Neurology. 1999 Jul 22;53(2):270-7. doi: 10.1212/wnl.53.2.270. Neurology. 1999. PMID: 10430413

7

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.

Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D. Dobyns WB, et al. Am J Med Genet. 1999 Oct 8;86(4):331-7. Am J Med Genet. 1999. PMID: 10494089 Review.

8

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. Leventer RJ, et al. Among authors: dobyns wb. Neurology. 2001 Aug 14;57(3):416-22. doi: 10.1212/wnl.57.3.416. Neurology. 2001. PMID: 11502906

9

Classification system for malformations of cortical development: update 2001.

Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. Barkovich AJ, et al. Among authors: dobyns wb. Neurology. 2001 Dec 26;57(12):2168-78. doi: 10.1212/wnl.57.12.2168. Neurology. 2001. PMID: 11785496

10

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. Martin CL, et al. Among authors: dobyns wb. J Med Genet. 2002 Oct;39(10):734-40. doi: 10.1136/jmg.39.10.734. J Med Genet. 2002. PMID: 12362030 Free PMC article.

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