236 related articles for article (PubMed ID: 8357012)
1. Hirsutism-skeletal dysplasia-mental retardation syndrome with abnormal face and a uric acid metabolism disorder.
Wiedemann HR; Oldigs HD; Oppermann HC; Oster O
Am J Med Genet; 1993 Jun; 46(4):403-9. PubMed ID: 8357012
[TBL] [Abstract][Full Text] [Related]
2. New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.
Gurrieri F; Sammito V; Bellussi A; Neri G
Am J Med Genet; 1992 Oct; 44(3):315-20. PubMed ID: 1488978
[No Abstract] [Full Text] [Related]
3. New autosomal recessive syndrome of mental retardation, coarse face, microcephaly, epilepsy and skeletal abnormalities.
Battaglia A; Ferrari AR; Orsitto E; Gibilisco G; Neri G
Clin Dysmorphol; 1996 Jan; 5(1):41-7. PubMed ID: 8867658
[TBL] [Abstract][Full Text] [Related]
4. A Croatian case of the Schinzel-Giedion syndrome.
Culić V; Resic B; Oorthuys JW; Overweg-Plandsoen WC; Hennekam RC
Genet Couns; 1996; 7(1):21-5. PubMed ID: 8652084
[TBL] [Abstract][Full Text] [Related]
5. Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
Geneviève D; Héron D; El Ghouzzi V; Prost-Squarcioni C; Le Merrer M; Jacquette A; Sanlaville D; Pinton F; Villeneuve N; Kalifa G; Munnich A; Cormier-Daire V
Eur J Hum Genet; 2005 May; 13(5):541-6. PubMed ID: 15726110
[TBL] [Abstract][Full Text] [Related]
6. Parental consanguinity in two sibs with omodysplasia.
Baxová A; Maroteaux P; Barosová J; Netriová I
Am J Med Genet; 1994 Feb; 49(3):263-5. PubMed ID: 8209882
[TBL] [Abstract][Full Text] [Related]
7. Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome.
Kohn G; Malinger G; el Shawwa R; Scheinfeld A; Tepper R; Ornoy A; Lachman R; Rimoin DL
Am J Med Genet; 1995 Mar; 56(2):132-5. PubMed ID: 7625433
[TBL] [Abstract][Full Text] [Related]
8. Lenz-Majewski syndrome.
Gorlin RJ; Whitley CB
Radiology; 1983 Oct; 149(1):129-31. PubMed ID: 6611917
[TBL] [Abstract][Full Text] [Related]
9. Further delineation of the KBG syndrome.
Devriendt K; Holvoet M; Fryns JP
Genet Couns; 1998; 9(3):191-4. PubMed ID: 9777340
[TBL] [Abstract][Full Text] [Related]
10. Reduced renal excretion of uric acid in the hirsutism-skeletal dysplasia--mental retardation syndrome.
Oster O; Wiedemann HR; Duley IA; Simmonds HA; McBride MB
Am J Med Genet; 1994 Jun; 51(2):165-7. PubMed ID: 8092196
[No Abstract] [Full Text] [Related]
11. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.
Meinecke P
Genet Couns; 1993; 4(2):147-51. PubMed ID: 8395190
[TBL] [Abstract][Full Text] [Related]
12. Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.
Tamhankar PM; Vasudevan L; Bansal V; Menon SR; Gawde HM; D'Souza A; Babu S; Kondurkar S; Adhia R; Das DK
Eur J Med Genet; 2015 Aug; 58(8):392-9. PubMed ID: 26117586
[TBL] [Abstract][Full Text] [Related]
13. Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome.
Kelley RI; Zackai EH; Charney EB
J Pediatr; 1982 Jun; 100(6):943-6. PubMed ID: 7086596
[No Abstract] [Full Text] [Related]
14. Leprechaunism (Donohue's syndrome): a case report.
Tokatli A; Ozsoylu S; Ozme S
Turk J Pediatr; 1993; 35(4):319-22. PubMed ID: 8160285
[TBL] [Abstract][Full Text] [Related]
15. Acrocallosal syndrome: a new case.
Lungarotti MS; Marinelli D; Mezzetti D; Caputo N; Calabro A
Am J Med Genet; 1991 Jul; 40(1):94-6. PubMed ID: 1887856
[TBL] [Abstract][Full Text] [Related]
16. Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs.
Toledo SP; Saldanha PH; Lamego C; Mourão PA; Dietrich CP; Mattar E
Am J Med Genet; 1979; 4(3):255-61. PubMed ID: 117710
[TBL] [Abstract][Full Text] [Related]
17. A new syndrome: multiple congenital abnormalities and mental retardation in two brothers.
Dundar M; Ozdemir SY; Fryns JP
Genet Couns; 2012; 23(1):13-8. PubMed ID: 22611637
[TBL] [Abstract][Full Text] [Related]
18. Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.
Coulibaly B; Sigaudy S; Girard N; Popovici C; Missirian C; Heckenroth H; Tasei AM; Fernandez C
Eur J Med Genet; 2010; 53(5):318-21. PubMed ID: 20624500
[TBL] [Abstract][Full Text] [Related]
19. [Emergency cesarean in a patient with Coffin-Siris syndrome].
Fornet I; Morillas P; López MA; Palacio FJ; Aguilar JM; Mesa JL
Rev Esp Anestesiol Reanim; 2007 Nov; 54(9):563-5. PubMed ID: 18085110
[TBL] [Abstract][Full Text] [Related]
20. The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome.
Temtamy SA; Miller JD; Hussels-Maumenee I
J Pediatr; 1975 May; 86(5):724-31. PubMed ID: 1133653
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
