160 related articles for article (PubMed ID: 2107046)
1. Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings. A "new" mental retardation syndrome.
Fryns JP; Vogels A; van den Berghe H
Clin Genet; 1990 Feb; 37(2):111-6. PubMed ID: 2107046
[TBL] [Abstract][Full Text] [Related]
2. A new X linked syndrome with mental retardation and craniofacial dysmorphism?
Hyde-Forster I; McCarthy G; Berry AC
J Med Genet; 1992 Oct; 29(10):736-8. PubMed ID: 1433236
[TBL] [Abstract][Full Text] [Related]
3. Mental retardation, macrocephaly, short stature and craniofacial dysmorphism in three sisters. A new entity among the mental retardation-macrocephaly syndromes?
Fryns JP; Dereymaeker AM; Haegeman J; van den Berghe H
Clin Genet; 1988 Apr; 33(4):293-8. PubMed ID: 3359686
[TBL] [Abstract][Full Text] [Related]
4. Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome.
Devriendt K; D'Espallier L; Fryns JP
J Med Genet; 1996 Mar; 33(3):224-6. PubMed ID: 8728696
[TBL] [Abstract][Full Text] [Related]
5. A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms.
Fabisiak K; Erickson RP
Clin Genet; 1990 Nov; 38(5):353-8. PubMed ID: 2126489
[TBL] [Abstract][Full Text] [Related]
6. Three new forms of familial epilepsy syndromes in the proposed diagnostic scheme of the ILAE (2001): a clinical experience in Southwest China.
Lu Y; Yu W; Shen D; Wang X
Epilepsia; 2008 Jun; 49(6):1103. PubMed ID: 18554358
[No Abstract] [Full Text] [Related]
7. The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.
Klein KM; Pendziwiat M; Eilam A; Gilad R; Blatt I; Rosenow F; Kanaan M; Helbig I; Afawi Z;
J Neurol; 2017 Jul; 264(7):1421-1425. PubMed ID: 28620718
[TBL] [Abstract][Full Text] [Related]
8. Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients.
Fryns JP; Thiry P; Geutjens J; Smeets E; Vinken L; Van den Berghe H
J Med Genet; 1993 Apr; 30(4):319-21. PubMed ID: 8487281
[TBL] [Abstract][Full Text] [Related]
9. Deletion of the short arm of chromosome 9. A clinically recognisable entity.
Fryns JP; Pedersen JC; Duyck H; Fabry G; Van den Berghe H
Eur J Pediatr; 1980 Sep; 134(3):201-4. PubMed ID: 7428770
[TBL] [Abstract][Full Text] [Related]
10. The Miller-Dieker syndrome: a case report and review of the literature.
Izmeth MG; Parameshwar E
J Ment Defic Res; 1989 Jun; 33 ( Pt 3)():267-70. PubMed ID: 2666671
[TBL] [Abstract][Full Text] [Related]
11. Atypical "benign" partial epilepsy of childhood or pseudo-lennox syndrome. Part II: family study.
Doose H; Hahn A; Neubauer BA; Pistohl J; Stephani U
Neuropediatrics; 2001 Feb; 32(1):9-13. PubMed ID: 11315204
[TBL] [Abstract][Full Text] [Related]
12. An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation.
Buttiens M; Fryns JP; van den Berghe H
Clin Genet; 1989 Dec; 36(6):451-55. PubMed ID: 2591071
[TBL] [Abstract][Full Text] [Related]
13. Studies on chromosomal anomaly syndrome with epilepsy.
Sugama S; Akatsuka A; Ochiai Y; Tsuzura S; Maekawa K
Jpn J Psychiatry Neurol; 1993 Jun; 47(2):283-5. PubMed ID: 8271565
[No Abstract] [Full Text] [Related]
14. Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy.
Fryns JP; Van Lingen C; Devriendt K; Legius E; Raus P
J Med Genet; 1998 Apr; 35(4):333-5. PubMed ID: 9598731
[TBL] [Abstract][Full Text] [Related]
15. Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism.
Devriendt K; Van den Berghe H; Fryns JP
Clin Genet; 1996 Jan; 49(1):6-9. PubMed ID: 8721564
[TBL] [Abstract][Full Text] [Related]
16. Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism.
Marxmiller J; Trenkle I; Ashwal S
Dev Med Child Neurol; 1985 Jun; 27(3):335-43. PubMed ID: 3926570
[TBL] [Abstract][Full Text] [Related]
17. A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.
Woodhouse NJ; Sakati NA
J Med Genet; 1983 Jun; 20(3):216-9. PubMed ID: 6876115
[TBL] [Abstract][Full Text] [Related]
18. A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram.
Kaufman LM
Ophthalmic Genet; 1998 Jun; 19(2):69-79. PubMed ID: 9695088
[TBL] [Abstract][Full Text] [Related]
19. The Greig polysyndactyly-craniofacial dysmorphism syndrome.
Fryns JP; Coeck W; van den Berghe H
Eur J Pediatr; 1977 Nov; 126(4):283-7. PubMed ID: 201464
[TBL] [Abstract][Full Text] [Related]
20. MASA syndrome: delineation of the clinical spectrum at prepubertal age.
Fryns JP; Schrander-Stumpel C; De Die-Smulders C; Borghgraef M; Van den Berghe H
Am J Med Genet; 1992 Apr 15-May 1; 43(1-2):402-7. PubMed ID: 1605218
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]