Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 101

1.

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.

Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI.

Am J Med Genet A. 2019 Mar;179(3):442-447. doi: 10.1002/ajmg.a.61045. Epub 2019 Jan 31.

PMID:
30703280
2.

Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

Tokita MJ, Sybert VP.

Am J Med Genet A. 2016 May;170A(5):1196-201. doi: 10.1002/ajmg.a.37551. Epub 2016 Jan 20.

PMID:
26789280
3.

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

Johnston JJ, Sanchez-Contreras MY, Keppler-Noreuil KM, Sapp J, Crenshaw M, Finch NA, Cormier-Daire V, Rademakers R, Sybert VP, Biesecker LG.

Am J Hum Genet. 2015 Sep 3;97(3):465-74. doi: 10.1016/j.ajhg.2015.07.009. Epub 2015 Aug 13.

4.

So You Want to Be in Journals, or What Happens When You Press "Send".

Sybert VP.

Pediatr Dermatol. 2015 Jul-Aug;32(4):558-61. doi: 10.1111/pde.12573. Epub 2015 Apr 6. No abstract available.

PMID:
25847689
5.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

6.

Ventral midline blanching in the setting of segmental infantile hemangiomas: clinical observations and pathogenetic implications.

Feigenbaum DF, Sybert VP, Vanderhooft SL, Siegel D, Drolet BA, Frieden IJ, Mathes EF.

Pediatr Dermatol. 2015 Mar-Apr;32(2):180-7. doi: 10.1111/pde.12462. Epub 2014 Dec 22.

PMID:
25529105
7.

Folliculocystic and collagen hamartoma of tuberous sclerosis complex.

Torrelo A, Hadj-Rabia S, Colmenero I, Piston R, Sybert VP, Hilari-Carbonell H, Hernández-Martín A, Ferreres JC, Vañó-Galván S, Azorín D, de Salamanca JE, Requena L, Bodemer C, Happle R, García-Patos V, Fraitag S.

J Am Acad Dermatol. 2012 Apr;66(4):617-21. doi: 10.1016/j.jaad.2011.04.002. Epub 2011 Aug 12.

PMID:
21839539
8.

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.

Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT.

Hum Mutat. 2010 Oct;31(10):1125-33. doi: 10.1002/humu.21335.

PMID:
20672378
9.

Genetic counseling in epidermolysis bullosa.

Sybert VP.

Dermatol Clin. 2010 Apr;28(2):239-43, viii. doi: 10.1016/j.det.2009.12.004. Review.

PMID:
20447486
10.

Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.

Julapalli MR, Scher RK, Sybert VP, Siegfried EC, Bree AF.

Am J Med Genet A. 2009 Sep;149A(9):1900-6. doi: 10.1002/ajmg.a.32797.

PMID:
19681128
11.

International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.

Fete M, vanBokhoven H, Clements SE, McKeon F, Roop DR, Koster MI, Missero C, Attardi LD, Lombillo VA, Ratovitski E, Julapalli M, Ruths D, Sybert VP, Siegfried EC, Bree AF.

Am J Med Genet A. 2009 Sep;149A(9):1885-93. doi: 10.1002/ajmg.a.32761.

12.

Mosaicism in genetic skin disorders.

Siegel DH, Sybert VP.

Pediatr Dermatol. 2006 Jan-Feb;23(1):87-92. Review. No abstract available.

PMID:
16445423
13.

Hereditary woolly hair and keratosis pilaris.

Chien AJ, Valentine MC, Sybert VP.

J Am Acad Dermatol. 2006 Feb;54(2 Suppl):S35-9.

PMID:
16427989
14.

Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate.

Siegfried E, Bree A, Fete M, Sybert VP.

Arch Dermatol. 2005 Dec;141(12):1591-4. Review. No abstract available.

PMID:
16365264
15.

Growth characteristics of children with ectodermal dysplasia syndromes.

Motil KJ, Fete TJ, Fraley JK, Schultz RJ, Foy TM, Ochs U, Sybert VP.

Pediatrics. 2005 Aug;116(2):e229-34.

PMID:
16061575
16.

Mosaicism in cutaneous pigmentation.

Lombillo VA, Sybert VP.

Curr Opin Pediatr. 2005 Aug;17(4):494-500. Review.

PMID:
16012262
17.

Understanding aneuploidy.

Siegel DH, Sybert VP.

Pediatr Dermatol. 2005 May-Jun;22(3):270-5. Review. No abstract available.

PMID:
15916583
18.

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA.

Am J Hum Genet. 2005 May;76(5):794-803. Epub 2005 Mar 8.

19.

Turner's syndrome.

Sybert VP, McCauley E.

N Engl J Med. 2004 Sep 16;351(12):1227-38. Review. No abstract available.

PMID:
15371580
20.

Phenotype and X inactivation in 45,X/46,X,r(X) cases.

Leppig KA, Sybert VP, Ross JL, Cunniff C, Trejo T, Raskind WH, Disteche CM.

Am J Med Genet A. 2004 Jul 30;128A(3):276-84.

PMID:
15216549
21.
22.

Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex.

Mitchell AL, Parisi MA, Sybert VP.

Genet Med. 2003 May-Jun;5(3):154-60.

PMID:
12792422
23.

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J.

J Invest Dermatol. 2003 Apr;120(4):601-9.

24.

Growth failure in early life: an important manifestation of Turner syndrome.

Davenport ML, Punyasavatsut N, Stewart PW, Gunther DF, Sävendahl L, Sybert VP.

Horm Res. 2002;57(5-6):157-64.

PMID:
12053087
25.

Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome.

Sybert VP.

J Med Genet. 2002 Mar;39(3):217-20. Review. No abstract available.

26.

Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients.

Livingston RJ, Sybert VP, Smith LT, Dale BA, Presland RB, Stephens K.

J Invest Dermatol. 2001 Jun;116(6):970-4.

27.

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.

Parisi MA, Dinulos MB, Leppig KA, Sybert VP, Eng C, Hudgins L.

J Med Genet. 2001 Jan;38(1):52-8. No abstract available.

28.

Updated guide to information for families with inherited skin disorders.

Sybert VP.

Pediatr Dermatol. 2001 Jan-Feb;18(1):77-82. No abstract available.

PMID:
11207982
29.

Molecular genetics in pediatric dermatology.

Parisi MA, Sybert VP.

Curr Opin Pediatr. 2000 Aug;12(4):347-53. Review.

PMID:
10943815
30.

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

Dorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K.

Hum Mol Genet. 2000 Jan 1;9(1):35-46.

PMID:
10587576
31.

Outcome after surgical repair of junctional epidermolysis bullosa-pyloric atresia syndrome: a report of 3 cases and review of the literature.

Dank JP, Kim S, Parisi MA, Brown T, Smith LT, Waldhausen J, Sybert VP.

Arch Dermatol. 1999 Oct;135(10):1243-7. Review.

PMID:
10522673
32.

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.

Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH.

Am J Hum Genet. 1999 Mar;64(3):732-8.

33.

Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

Zinn AR, Tonk VS, Chen Z, Flejter WL, Gardner HA, Guerra R, Kushner H, Schwartz S, Sybert VP, Van Dyke DL, Ross JL.

Am J Hum Genet. 1998 Dec;63(6):1757-66.

34.

A new variant of trichothiodystrophy with recurrent infections, failure to thrive, and death.

Petrin JH, Meckler KA, Sybert VP.

Pediatr Dermatol. 1998 Jan-Feb;15(1):31-4.

PMID:
9496800
35.

Lymphedema as a postulated cause of cutis verticis gyrata in Turner syndrome.

Larralde M, Gardner SS, Torrado MV, Fernhoff PM, Santos Muñoz AE, Spraker MK, Sybert VP.

Pediatr Dermatol. 1998 Jan-Feb;15(1):18-22.

PMID:
9496797
36.
37.

Cardiovascular malformations and complications in Turner syndrome.

Sybert VP.

Pediatrics. 1998 Jan;101(1):E11.

PMID:
9417175
38.

Development of melanocytic nevi in children.

Sybert VP.

Arch Dermatol. 1997 Aug;133(8):1049. No abstract available.

PMID:
9267256
39.

Incontinentia pigmenti.

Francis JS, Sybert VP.

Semin Cutan Med Surg. 1997 Mar;16(1):54-60. Review.

PMID:
9125766
40.
41.

Is cyproheptadine effective in the treatment of subjects with epidermolysis bullosa simplex-Dowling-Meara?

Neufeld-Kaiser W, Sybert VP.

Arch Dermatol. 1997 Feb;133(2):251-2. No abstract available.

PMID:
9041851
42.

Prevalence of hypopigmented macules in a healthy population.

Vanderhooft SL, Francis JS, Pagon RA, Smith LT, Sybert VP.

J Pediatr. 1996 Sep;129(3):355-61.

PMID:
8804323
43.

Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia.

Brown TA, Gil SG, Sybert VP, Lestringant GG, Tadini G, Caputo R, Carter WG.

J Invest Dermatol. 1996 Sep;107(3):384-91. Erratum in: J Invest Dermatol 1997 Feb;108(2):237.

44.

Cimetidine therapy for multiple viral warts in children.

Bauman C, Francis JS, Vanderhooft S, Sybert VP.

J Am Acad Dermatol. 1996 Aug;35(2 Pt 1):271-2. No abstract available.

PMID:
8708037
45.

Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome.

Koeberl DD, McGillivray B, Sybert VP.

Am J Hum Genet. 1995 Sep;57(3):661-6.

46.

A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.

Ehrlich P, Sybert VP, Spencer A, Stephens K.

J Invest Dermatol. 1995 May;104(5):877-9.

47.

Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.

Stephens K, Zlotogorski A, Smith L, Ehrlich P, Wijsman E, Livingston RJ, Sybert VP.

Am J Hum Genet. 1995 Mar;56(3):577-85.

48.

Psychosocial and sexual functioning in women with Turner syndrome.

Pavlidis K, McCauley E, Sybert VP.

Clin Genet. 1995 Feb;47(2):85-9.

PMID:
7606849
49.

Re: True agonadism: report of a case analyzed with Y-specific DNA probes.

Sybert VP, Pagon RA, Ramsdell L, Marymee K.

Am J Med Genet. 1995 Jan 2;55(1):113. No abstract available.

PMID:
7702082
50.

Hypomelanosis of Ito: a description, not a diagnosis.

Sybert VP.

J Invest Dermatol. 1994 Nov;103(5 Suppl):141S-143S. Review.

Supplemental Content

Loading ...
Support Center