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Items: 1 to 20 of 104

2.

Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association.

Abruzzo MA, Erickson RP.

Am J Med Genet. 1989 Nov;34(3):397-400.

PMID:
2596527
3.

Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome.

Joss SK, Paterson W, Donaldson MD, Tolmie JL.

Am J Med Genet. 2002 Nov 15;113(1):105-7.

PMID:
12400075
4.
5.

A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate.

Lohi O, Kuusela AL, Arola M.

J Inherit Metab Dis. 2005;28(6):1165-6.

PMID:
16435219
6.

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate.

Ravine D, Ragge NK, Stephens D, Oldridge M, Wilkie AO.

Am J Med Genet. 1997 Oct 17;72(2):227-36.

PMID:
9382148
7.

Short stature, mental retardation, eye anomalies, and cleft lip/palate.

Richieri-Costa A, Guion-Almeida ML.

Am J Med Genet. 1992 Feb 15;42(4):449-52.

PMID:
1609826
8.

Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait.

Becerra-Solano LE, Casillas-Avila MP, Díaz-Rodríguez M, Nastasi-Catanese JA, Toscano-Flores JJ, Ramírez-Dueñas ML.

Genet Couns. 2007;18(3):317-23.

PMID:
18019373
9.

The telecanthus-hypospadias syndrome.

Stevens CA, Wilroy RS Jr.

J Med Genet. 1988 Aug;25(8):536-42. Review.

10.

Phenotypic overlap of the BBB and G syndromes.

Cordero JF, Holmes LB.

Am J Med Genet. 1978;2(2):145-52.

PMID:
263434
11.
12.

Cat's eye syndrome with cleft soft palate.

Nakamura K.

Ann Plast Surg. 1985 Jan;14(1):77-80.

PMID:
3856414
13.

A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects? A brief clinical report.

Pierquin G, Hall M, Vanhelleputte C, Van Regemorter N.

Ophthalmic Paediatr Genet. 1991 Dec;12(4):183-6.

PMID:
1815169
14.
15.
16.

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
17.

Report of two cases with Van der Woude syndrome: a child and her mother.

Koçer U, Aksoy HM, Tiftikcioğlu YO, Cöloğlu H, Karaaslan O.

Genet Couns. 2001;12(4):341-6.

PMID:
11837602
18.

Marden-Walker syndrome: a case report and a critical review of the literature.

Williams MS, Josephson KD, Wargowski DS.

Clin Dysmorphol. 1993 Jul;2(3):211-9. Review.

PMID:
7506965
19.

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
20.

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