216 related articles for article (PubMed ID: 9571283)
1. Central nervous system malformations, dense bones and facial dysmorphism: a new autosomal recessive syndrome.
al-Gazali LI; Bakalinova D; Bakir M
Clin Dysmorphol; 1998 Apr; 7(2):123-6. PubMed ID: 9571283
[TBL] [Abstract][Full Text] [Related]
2. Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?
de Mattos VF; Graziadio C; Machado Rosa RF; Lenhardt R; Alves RP; Trevisan P; Paskulin GA; Zen PR
Pediatr Neurol; 2014 Jun; 50(6):612-5. PubMed ID: 24690526
[TBL] [Abstract][Full Text] [Related]
3. Oto-facio-osseous-gonadal syndrome: a new form of syndromic deafness?
da-Silva EO; Duarte AR; Lins TS
Clin Genet; 1997 Jul; 52(1):51-5. PubMed ID: 9272713
[TBL] [Abstract][Full Text] [Related]
4. Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?
Corsello G; Albanese A; Piccione M; Giuffrè M; Opitz JM
Am J Med Genet; 1996 Dec; 66(3):265-8. PubMed ID: 8985484
[TBL] [Abstract][Full Text] [Related]
5. Melnick-Needles syndrome: indication for an autosomal recessive form.
ter Haar B; Hamel B; Hendriks J; de Jager J
Am J Med Genet; 1982 Dec; 13(4):469-77. PubMed ID: 7158646
[TBL] [Abstract][Full Text] [Related]
6. Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration.
Khosravi M; Weaver DD; Bull MJ; Lachman R; Rimoin DL
Am J Med Genet; 1998 Apr; 77(1):63-71. PubMed ID: 9557897
[TBL] [Abstract][Full Text] [Related]
7. Neonatal Marshall-Smith syndrome.
Gómez-Santos E; Lloreda-García JM; Fernández-Fructuoso JR; Martínez-Ferrández C; Leante-Castellanos JL; Fuentes-Gutiérrez C
Clin Dysmorphol; 2014 Apr; 23(2):42-44. PubMed ID: 24556605
[No Abstract] [Full Text] [Related]
8. Fronto-facio-nasal dysplasia.
Suthers G; David D; Clark B
Clin Dysmorphol; 1997 Jul; 6(3):245-9. PubMed ID: 9220195
[TBL] [Abstract][Full Text] [Related]
9. 3C syndrome with cryptorchidism and posterior embryotoxon.
Papadopoulou E; Sifakis S; Rogalidou M; Makrigiannakis A; Giannakopoulou C; Petersen MB
Clin Dysmorphol; 2005 Apr; 14(2):97-100. PubMed ID: 15770133
[TBL] [Abstract][Full Text] [Related]
10. A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: a new syndrome?
Nishimura G; Nagai T
J Hum Genet; 1998; 43(1):65-8. PubMed ID: 9610002
[TBL] [Abstract][Full Text] [Related]
11. Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.
Li J; Shivakumar S; Wakahiro M; Mukherjee P; Barkovich AJ; Slavotinek A; Sherr EH
Am J Med Genet A; 2007 Aug; 143A(16):1900-5. PubMed ID: 17632789
[TBL] [Abstract][Full Text] [Related]
12. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?
Guion-Almeida ML; Richieri-Costa A
Am J Med Genet A; 2006 Nov; 140(22):2478-81. PubMed ID: 17041938
[TBL] [Abstract][Full Text] [Related]
13. Brachydactylic multiple delta phalanges plus syndrome.
Ahn CP; Lachman RS; Cox VA; Blumberg B; Klein OD
Am J Med Genet A; 2005 Sep; 138(1):41-4. PubMed ID: 16092122
[TBL] [Abstract][Full Text] [Related]
14. Further evidence for the autosomal-recessive inheritance of the COFS syndrome.
Lurie IW; Cherstvoy ED; Lazjuk GI; Nedzved MK; Usoev SS
Clin Genet; 1976 Dec; 10(6):343-6. PubMed ID: 825334
[No Abstract] [Full Text] [Related]
15. Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
al-Gazali LI; Bakalinova D
Clin Dysmorphol; 1998 Jul; 7(3):177-84. PubMed ID: 9689990
[TBL] [Abstract][Full Text] [Related]
16. Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome.
al-Gazali LI; Bakir M; Sadaghatian MR; Nath R; Haas D
Clin Dysmorphol; 1999 Apr; 8(2):87-92. PubMed ID: 10319196
[TBL] [Abstract][Full Text] [Related]
17. Mandibulo-acral dysplasia.
Hoeffel JC; Mainard L; Chastagner P; Hoeffel CC
Skeletal Radiol; 2000 Nov; 29(11):668-71. PubMed ID: 11201039
[TBL] [Abstract][Full Text] [Related]
18. Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.
Bayoumi R; Saar K; Lee YA; Nürnberg G; Reis A; Nur-E-Kamal M; Al-Gazali LI
J Med Genet; 2001 Jun; 38(6):369-73. PubMed ID: 11389160
[TBL] [Abstract][Full Text] [Related]
19. Intracranial calcification in Raine syndrome: radiological pathological correlation.
al-Mane K; al-Dayel F; McDonald P
Pediatr Radiol; 1998 Nov; 28(11):820-3. PubMed ID: 9799309
[TBL] [Abstract][Full Text] [Related]
20. Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
Mansour S; Swinkels M; Terhal PA; Wilson LC; Rich P; Van Maldergem L; Zwijnenburg PJ; Hall CM; Robertson SP; Newbury-Ecob R
Eur J Hum Genet; 2012 Oct; 20(10):1024-31. PubMed ID: 22473091
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
