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Items: 1 to 20 of 171

1.

Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case.

Martínez Santana S, Pérez Alvarez F, Frías JL, Martínez-Frías ML.

Am J Med Genet. 1993 Aug 1;47(1):20-3.

PMID:
8368246
2.

What syndrome is this? Barber-Say syndrome.

Tenea D, Jacyk WK.

Pediatr Dermatol. 2006 Mar-Apr;23(2):183-4. No abstract available.

PMID:
16650233
3.

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O.

Am J Med Genet A. 2009 Oct;149A(10):2236-40. doi: 10.1002/ajmg.a.32993.

PMID:
19760652
4.

Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder form of Barber-Say Syndrome.

Sod R, Izbizky G, Cohen-Salama M.

Am J Med Genet. 1997 Dec 19;73(3):366-7. No abstract available.

PMID:
9415700
5.

Macrostomia, ectropion, atrophic skin, hypertrichosis: another observation.

David A, Gordeeff A, Badoual J, Delaire J.

Am J Med Genet. 1991 Apr 1;39(1):112-5.

PMID:
1867254
6.

Barber-Say syndrome in a father and daughter.

Roche N, Houtmeyers P, Janssens S, Blondeel P.

Am J Med Genet A. 2010 Oct;152A(10):2563-8. doi: 10.1002/ajmg.a.33622.

PMID:
20799330
7.

[Barber-Say syndrome].

Makita Y.

Ryoikibetsu Shokogun Shirizu. 2001;(33):250. Review. Japanese. No abstract available.

PMID:
11462424
8.

Ablepharon-macrostomia syndrome.

Stevens CA, Sargent LA.

Am J Med Genet. 2002 Jan 1;107(1):30-7.

PMID:
11807864
9.

Ablepharon-macrostomia syndrome: first report of familial occurrence.

Ferraz VE, Melo DG, Hansing SE, Cruz AA, Pina-Neto JM.

Am J Med Genet. 2000 Oct 2;94(4):281-3.

PMID:
11038439
10.

Barber-Say Syndrome: report of a new case.

Mazzanti L, Bergamaschi R, Neri I, Perri A, Patrizi A, Cacciari E, Forabosco A.

Am J Med Genet. 1998 Jun 30;78(2):188-91.

PMID:
9674915
11.

Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome?

Cesarino EJ, Pinheiro M, Freire-Maia N, Meira-Silva MC.

Am J Med Genet. 1988 Oct;31(2):299-304. Review.

PMID:
3068987
12.

Autosomal dominant inheritance of Barber-Say syndrome.

Dinulos MB, Pagon RA.

Am J Med Genet. 1999 Sep 3;86(1):54-6.

PMID:
10440829
13.

Confirmation of the macroblepharon, ectropion, hypertelorism, and macrostomia syndrome.

Corona-Rivera JR, Bobadilla-Morales L, Corona-Rivera A, Aguirre-Guillén RL, López-Marure E, Mellin-Sánchez EL.

Clin Dysmorphol. 2013 Apr;22(2):81-3. doi: 10.1097/MCD.0b013e3283602830. No abstract available.

PMID:
23448909
14.

Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.

Pellegrino JE, Schnur RE, Boghosian-Sell L, Strathdee G, Overhauser J, Spinner NB, Stump T, Grace K, Zackai EH.

Hum Genet. 1996 Apr;97(4):532-6.

PMID:
8834257
15.

Hypertrichosis, pigmentary retinopathy, and facial anomalies: a new syndrome?

Pivnick EK, Wilroy RS, Martens PR, Teather TC, Hashimoto K.

Am J Med Genet. 1996 Apr 24;62(4):386-90.

PMID:
8723069
16.

Oculo-ectodermal syndrome: a new case.

Evers ME, Dijkman-Neerincx RH, Hamel BC.

Am J Med Genet. 1994 Dec 1;53(4):378-9.

PMID:
7864049
17.

Severe oculocerebrocutaneous (Delleman) syndrome: overlap with Goldenhar anomaly.

McCandless SE, Robin NH.

Am J Med Genet. 1998 Jul 7;78(3):282-5.

PMID:
9677067
18.

Oral and dental abnormalities in Barber-Say syndrome.

Martins F, Ortega KL, Hiraoka C, Ricardo P, Magalhães M.

Am J Med Genet A. 2010 Oct;152A(10):2569-73. doi: 10.1002/ajmg.a.32898.

PMID:
20830793
19.

A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence.

Jackson IT, Shaw KE, del Pinal Matorras F.

Br J Plast Surg. 1988 Jul;41(4):410-6. Review.

PMID:
3293678
20.
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