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Items: 18

1.

Autosomal dominant Goldenhar syndrome.

Godel V, Regenbogen L, Goya V, Goodman RM.

Birth Defects Orig Artic Ser. 1982;18(6):621-8. No abstract available.

PMID:
7171780
2.

A new autosomal dominant acrofacial dysostosis syndrome.

Reynolds JF, Webb MJ, Opitz JM.

Am J Med Genet Suppl. 1986;2:143-50. Review.

PMID:
3146284
3.

Oculoauriculovertebral anomaly: variability and causal heterogeneity.

Rollnick BR.

Am J Med Genet Suppl. 1988;4:41-53. Review.

PMID:
3144985
4.

Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature.

Vendramini-Pittoli S, Kokitsu-Nakata NM.

Clin Dysmorphol. 2009 Apr;18(2):67-77. doi: 10.1097/MCD.0b013e328323a7dd. Review.

PMID:
19305190
5.

A family with autosomal dominant oculo-auriculo-vertebral spectrum.

Tasse C, Majewski F, Böhringer S, Fischer S, Lüdecke HJ, Gillessen-Kaesbach G, Wieczorek D.

Clin Dysmorphol. 2007 Jan;16(1):1-7. Review.

PMID:
17159507
6.

Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.

Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M.

Am J Med Genet. 1993 Oct 1;47(5):660-78. Review.

PMID:
8266994
7.

[Goldenhar syndrome: apropos of 2 cases].

Medina Banegas A, Gil Vélez M, Osete Albaladejo JM, Argudo Marco F, Díaz-Yelo J.

Acta Otorrinolaringol Esp. 1990 Mar-Apr;41(2):119-22. Review. Spanish.

PMID:
2202347
8.
9.

Treacher Collins syndrome: perspectives in evaluation and treatment.

Posnick JC.

J Oral Maxillofac Surg. 1997 Oct;55(10):1120-33. Review. No abstract available.

PMID:
9331237
10.

Treacher Collins syndrome: from linkage to prenatal testing.

Dixon MJ.

J Laryngol Otol. 1998 Aug;112(8):705-9. Review. No abstract available.

PMID:
9850311
11.

Acrofacial dysostosis of unknown type: nosology of the acrofacial dysostoses.

Preis S, Raymaekers-Buntinx I, Majewski F.

Am J Med Genet. 1995 Mar 27;56(2):155-60. Review.

PMID:
7625437
12.

Mandibulofacial dysostosis Bauru type syndrome: A new case.

Zechi-Ceide RM, Guion-Almeida ML.

Am J Med Genet. 1999 Sep 10;86(2):199-201. Review. No abstract available.

PMID:
10449663
13.

[Nager syndrome].

Opitz C, Shetty DK, Witkowski R.

Mund Kiefer Gesichtschir. 1998 May;2(3):122-6. Review. German.

PMID:
9658800
14.

Francois' dyscephalic syndrome.

Francois J.

Birth Defects Orig Artic Ser. 1982;18(6):595-619. Review. No abstract available.

PMID:
6756501
15.

Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).

Lazalde B, Sánchez-Urbina R, Nuño-Arana I, Bitar WE, de Lourdes Ramírez-Dueñas M.

Am J Med Genet. 2000 Oct 23;94(5):421-7. Review.

PMID:
11050630
16.

Non-syndromic autosomal dominant sensorineural hearing loss: a new field of research.

Kunst H, Marres H, Van Camp G, Cremers C.

Clin Otolaryngol Allied Sci. 1998 Feb;23(1):9-17. Review. No abstract available.

PMID:
9563659
17.

[The Robinow syndrome: a report of a family with autosomal dominant transmission].

Díaz López MT, Lorenzo Sanz G, Quintana Castilla A, Esteve de Pablo C, Aparicio Meix JM.

An Esp Pediatr. 1996 May;44(5):520-3. Review. Spanish. No abstract available.

PMID:
8928981
18.

The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.

Tekin M, Kavaz A, Berberoğlu M, Fitoz S, Ekim M, Ocal G, Akar N.

Am J Med Genet A. 2004 Oct 15;130A(3):284-7. Review.

PMID:
15378538
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