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Items: 1 to 20 of 515

1.

New cases of Bohring-Opitz syndrome, update, and critical review of the literature.

Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P.

Am J Med Genet A. 2006 Jun 15;140(12):1257-63. Review.

PMID:
16691589
2.

Infantile high myopia in Bohring-Opitz syndrome.

Simpson AR, Gibbon CE, Quinn AG, Turnpenny PD.

J AAPOS. 2007 Oct;11(5):524-5. Epub 2007 May 10.

PMID:
17498985
3.

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, Poss A, Opitz JM.

Am J Med Genet. 1999 Aug 27;85(5):438-46. Review.

PMID:
10405439
4.

G syndrome: a review of the literature and a case report.

Bershof JF, Guyuron B, Olsen MM.

J Craniomaxillofac Surg. 1992 Jan;20(1):24-7. Review.

PMID:
1564117
5.

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.

Leonardi ML, Pai GS, Wilkes B, Lebel RR.

Am J Med Genet. 2001 Aug 15;102(3):237-42. Review.

PMID:
11484200
6.
7.

Three siblings with Robert's syndrome.

Zergollern L, Hitrec F.

Clin Genet. 1976 Apr;9(4):433-6.

PMID:
177235
8.

Multidisciplinary management of Opitz G BBB syndrome.

Parashar SY, Anderson PJ, Cox TC, McLean N, David DJ.

Ann Plast Surg. 2005 Oct;55(4):402-7.

PMID:
16186708
9.

Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.

Hsieh EW, Vargervik K, Slavotinek AM.

Am J Med Genet A. 2008 Sep 15;146A(18):2337-45. doi: 10.1002/ajmg.a.32368.

PMID:
18697196
10.

Treatment of craniofacial midline clefts in association with hamartomas: report of three cases.

Joos U, Anastassov GE.

J Oral Maxillofac Surg. 1998 Mar;56(3):383-92. No abstract available.

PMID:
9496855
11.

Malpuech syndrome: three patients and a review.

Kerstjens-Frederikse WS, Brunner HG, van Dael CM, van Essen AJ.

Am J Med Genet A. 2005 May 1;134(4):450-3. Review.

PMID:
15793834
12.

Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity.

Leitch RJ, Winter RM.

Acta Ophthalmol Scand Suppl. 1996;(219):16-9. Review.

PMID:
8741108
13.

Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.

Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA.

Am J Med Genet A. 2009 Sep;149A(9):1916-21. doi: 10.1002/ajmg.a.32791.

PMID:
19676059
14.

Neonatal teeth in X-linked Opitz (G/BBB) syndrome.

Shaw A, Longman C, Irving M, Splitt M.

Clin Dysmorphol. 2006 Jul;15(3):185-6.

PMID:
16760742
15.

Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development.

Fryns JP, Delooz J, van den Berghe H.

Clin Genet. 1992 Dec;42(6):314-6.

PMID:
1493644
16.

Teebi hypertelorism syndrome.

Koenig R.

Clin Dysmorphol. 2003 Jul;12(3):187-9.

PMID:
14564158
17.

Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.

Weaver KN, Rutledge KD, Grant JH, Robin NH.

Am J Med Genet A. 2010 Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207.

PMID:
20101698
18.

Case of polyhydramnios complicated by Opitz G/BBB syndrome.

Tajima H, Itoh H, Mochizuki A, Nakamura Y, Kobayashi Y, Hirai K, Suzuki K, Sugihara K, Ohishi A, Ohzeki T, Kanayama N.

J Obstet Gynaecol Res. 2010 Aug;36(4):876-81. doi: 10.1111/j.1447-0756.2010.01257.x.

PMID:
20666962
19.

Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.

Priolo M, Ciccone R, Bova I, Campolo G, Laganà C, Zuffardi O.

Eur J Med Genet. 2007 Mar-Apr;50(2):139-43. Epub 2006 Oct 28.

PMID:
17140870
20.

Congenital chylothorax in Opitz G/BBB syndrome.

Funke S, Kellermayer R, Czakó M, So J, Kosztolányi G, Ertl T.

Am J Med Genet A. 2006 May 15;140(10):1119-21. No abstract available.

PMID:
16619207

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