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Items: 1 to 20 of 273

1.

DOOR syndrome: report of three additional cases.

Félix TM, de Menezes Karam S, Della Rosa VA, Moraes AM.

Clin Dysmorphol. 2002 Apr;11(2):133-8.

PMID:
12002145
2.
3.

Additional case report of the DOOR syndrome.

Hess RO, Pecotte JK.

Am J Med Genet. 1984 Oct;19(2):401-5. No abstract available.

PMID:
6507487
4.

Oto-palato-digital syndrome with features of type I and II in brothers.

Horn D, Nitz I, Bollmann R.

Genet Couns. 1995;6(3):233-40.

PMID:
8588852
5.

[The Coffin-Siris syndrome. A new syndrome of mental retardation, hypo-aplasia of the nails and terminal phalanges of the 5th fingers and toes].

Mastroiacovo P, Salvaggio E, Parenti D.

Minerva Pediatr. 1977 Mar 31;29(11):773-8. Italian. No abstract available.

PMID:
875947
6.

Sensorineural deafness in the FG syndrome: report on four new cases.

Neri G, Blumberg B, Miles PV, Opitz JM.

Am J Med Genet. 1984 Oct;19(2):369-77.

PMID:
6542310
7.

[Coffin-Siris syndrome. Critical study of the literature apropos of a case].

Foasso MF, Hermier M, Descos B, Collet JP, Perron F.

Pediatrie. 1983 Mar;38(2):111-7. French.

PMID:
6622139
8.

Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome.

Cuevas-Sosa A, García-Segur F.

J Bone Joint Surg Br. 1971 Feb;53(1):101-5. No abstract available.

9.

Further delineation of the DOOR syndrome.

Rajab A, Riaz A, Paul G, Al-Khusaibi S, Chalmers R, Patton MA.

Clin Dysmorphol. 2000 Oct;9(4):247-51.

PMID:
11045579
10.

[Coffin-Siris syndrome in a 5-year-old girl].

Meinecke P, Engelbrecht R, Schaefer E.

Monatsschr Kinderheilkd. 1986 Sep;134(9):692-5. German.

PMID:
3785238
11.

Coffin-Lowry syndrome and schizophrenia: a family report.

Collacott RA, Warrington JS, Young ID.

J Ment Defic Res. 1987 Jun;31 ( Pt 2):199-207.

PMID:
3625766
12.
13.

Filippi syndrome: report of three additional cases.

Williams MS, Williams JL, Wargowski DS, Pauli RM, Pletcher BA.

Am J Med Genet. 1999 Nov 19;87(2):128-33. Review.

PMID:
10533026
14.

Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome.

Thornton CM, Magee AC, Thomas PS, Feakins R, Nevin NC, O'Hara MD.

Pediatr Pathol. 1994 Sep-Oct;14(5):797-803.

PMID:
7808978
15.
16.

Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?

Belengeanu V, Rozsnyai K, Farcaş S, Velea I, Fryns JP.

Genet Couns. 2005;16(2):167-71.

PMID:
16080297
17.

DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.

Patton MA, Krywawych S, Winter RM, Brenton DP, Baraitser M.

Am J Med Genet. 1987 Jan;26(1):207-15.

PMID:
3812564
18.

The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.

Dimitrov B, Balikova I, Bradinova I, Zahariev D, Popova A, Simeonov E, De Smet L, Devriendt K, Fryns JP.

Genet Couns. 2005;16(2):181-6. No abstract available.

PMID:
16080300
19.

Syndactyly type 1 with cataracts and mental retardation.

Pavone L, Fiumara A, Rizzo R, Parano E, Incorpora G.

Clin Dysmorphol. 1993 Jul;2(3):257-9.

PMID:
8287189
20.

Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome?

Yamamoto T, Tohyama J, Koeda T, Maegaki Y, Takahashi Y.

Am J Med Genet. 1995 Mar 13;56(1):6-9. Review.

PMID:
7747786

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