Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 116

1.

Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia in sibs.

Teebi AS.

Am J Med Genet. 1991 Mar 15;38(4):529-31. No abstract available.

PMID:
2063891
3.

Costello syndrome: the natural history of a true postnatal growth retardation syndrome.

Umans S, Decock P, Fryns JP.

Genet Couns. 1995;6(2):121-5.

PMID:
7546454
4.

Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation.

Masuno M, Imaizumi K, Aida N, Nishimura G, Kimura J, Kuroki Y.

Clin Dysmorphol. 2000 Jan;9(1):59-60.

PMID:
10649800
5.

FG syndrome: the trias mental retardation, hypotonia and constipation reviewed.

Zwamborn-Hanssen AM, Schrander-Stumpel CT, Smeets E, Decock P, Fryns JP.

Genet Couns. 1995;6(4):313-9.

PMID:
8775418
7.

Hereditary spastic diplegia with mental retardation in two young siblings.

Gustavson KH, Modrzewska K, Erikson A.

Clin Genet. 1989 Dec;36(6):439-41.

PMID:
2591069
8.

Hypospadias as a new congenital anomaly in Bowen-Conradi syndrome.

Aynaci FM, Mocan H, Erduran E, Gedik Y.

Genet Couns. 1994;5(4):369-71. No abstract available.

PMID:
7888139
9.
10.

Identification of 21r and 22r chromosomes by quinacrine fluorescence.

Crandall BF, Weber F, Muller HM, Burwell JK.

Clin Genet. 1972;3(4):264-70. No abstract available.

PMID:
5054320
11.

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
13.

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
14.

De novo interstitial deletion q16.2q21 on chromosome 6.

Villa A, Urioste M, Bofarull JM, Martínez-Frías ML.

Am J Med Genet. 1995 Jan 30;55(3):379-83. Review.

PMID:
7726240
15.

Hypopigmentation of the fundi associated with Pallister-Killian syndrome.

Birch M, Patterson A, Fryer A.

J Pediatr Ophthalmol Strabismus. 1995 Mar-Apr;32(2):128-31. No abstract available.

PMID:
7629670
16.
17.

Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).

Gorski JL, Cox BA, Kyine M, Uhlmann W, Glover TW.

Am J Med Genet. 1989 Mar;32(3):350-2.

18.

FG syndrome in a premature male.

Bianchi DW.

Am J Med Genet. 1984 Oct;19(2):383-6.

PMID:
6507484
19.

Dominant inheritance of bifid nose.

Anyane-Yeboa K, Raifman MA, Berant M, Frogel MP, Travers H.

Am J Med Genet. 1984 Mar;17(3):561-3.

PMID:
6711607
20.

2q35qter duplication syndrome: phenotypic definition.

Grammatico P, Di Rosa C, Rinaldi R, Roccella M, Cupilari F, Sbezzi T, Del Porto G.

Genet Couns. 1997;8(4):327-34.

PMID:
9457503

Supplemental Content

Support Center