439 related articles for article (PubMed ID: 16272165)
1. Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.
Chandler KE; Del Rio A; Rakshi K; Springell K; Williams DK; Stoodley N; Woods CG; Pilz DT
Brain; 2006 Jan; 129(Pt 1):272-7. PubMed ID: 16272165
[TBL] [Abstract][Full Text] [Related]
2. MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly.
Kivitie-Kallio S; Autti T; Salonen O; Norio R
Neuropediatrics; 1998 Dec; 29(6):298-301. PubMed ID: 10029348
[TBL] [Abstract][Full Text] [Related]
3. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.
Børglum AD; Balslev T; Haagerup A; Birkebaek N; Binderup H; Kruse TA; Hertz JM
Eur J Hum Genet; 2001 Oct; 9(10):753-7. PubMed ID: 11781686
[TBL] [Abstract][Full Text] [Related]
4. Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Chang BS; Piao X; Bodell A; Basel-Vanagaite L; Straussberg R; Dobyns WB; Qasrawi B; Winter RM; Innes AM; Voit T; Grant PE; Barkovich AJ; Walsh CA
Ann Neurol; 2003 May; 53(5):596-606. PubMed ID: 12730993
[TBL] [Abstract][Full Text] [Related]
5. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Parrini E; Ramazzotti A; Dobyns WB; Mei D; Moro F; Veggiotti P; Marini C; Brilstra EH; Dalla Bernardina B; Goodwin L; Bodell A; Jones MC; Nangeroni M; Palmeri S; Said E; Sander JW; Striano P; Takahashi Y; Van Maldergem L; Leonardi G; Wright M; Walsh CA; Guerrini R
Brain; 2006 Jul; 129(Pt 7):1892-906. PubMed ID: 16684786
[TBL] [Abstract][Full Text] [Related]
6. Cerebral abnormalities in the Neu-Laxova syndrome.
Ostrovskaya TI; Lazjuk GI
Am J Med Genet; 1988 Jul; 30(3):747-56. PubMed ID: 3055985
[TBL] [Abstract][Full Text] [Related]
7. Clinical and genetic heterogeneity of Seckel syndrome.
Faivre L; Le Merrer M; Lyonnet S; Plauchu H; Dagoneau N; Campos-Xavier AB; Attia-Sobol J; Verloes A; Munnich A; Cormier-Daire V
Am J Med Genet; 2002 Nov; 112(4):379-83. PubMed ID: 12376940
[TBL] [Abstract][Full Text] [Related]
8. New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.
Gillessen-Kaesbach G; Meinecke P; Garrett C; Padberg BC; Rehder H; Passarge E
Am J Med Genet; 1993 Feb; 45(4):511-8. PubMed ID: 8465860
[TBL] [Abstract][Full Text] [Related]
9. Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
Horn D; Krebsová A; Kunze J; Reis A
Am J Med Genet; 2000 Jun; 92(4):285-92. PubMed ID: 10842298
[TBL] [Abstract][Full Text] [Related]
10. Two siblings with a new Aicardi-Goutières-like syndrome.
Schwarz KB; Ferrie CD; Woods CG
Dev Med Child Neurol; 2002 Jun; 44(6):422-5. PubMed ID: 12088311
[TBL] [Abstract][Full Text] [Related]
11. Total anonychia congenita and microcephaly with normal intelligence: a new autosomal-recessive syndrome?
Teebi AS; Kaurah P
Am J Med Genet; 1996 Dec; 66(3):257-60. PubMed ID: 8985482
[TBL] [Abstract][Full Text] [Related]
12. Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.
Sztriha L; Al-Gazali LI; Várady E; Goebel HH; Nork M
Neuropediatrics; 1999 Jun; 30(3):141-5. PubMed ID: 10480209
[TBL] [Abstract][Full Text] [Related]
13. Brain magnetic resonance imaging in Wolf-Hirschhorn syndrome.
Righini A; Ciosci R; Selicorni A; Bianchini E; Parazzini C; Zollino M; Lodi M; Triulzi F
Neuropediatrics; 2007 Feb; 38(1):25-8. PubMed ID: 17607600
[TBL] [Abstract][Full Text] [Related]
14. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
Baala L; Briault S; Etchevers HC; Laumonnier F; Natiq A; Amiel J; Boddaert N; Picard C; Sbiti A; Asermouh A; Attié-Bitach T; Encha-Razavi F; Munnich A; Sefiani A; Lyonnet S
Nat Genet; 2007 Apr; 39(4):454-6. PubMed ID: 17353897
[TBL] [Abstract][Full Text] [Related]
15. Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.
Halevy A; Basel-Vanagaite L; Shuper A; Helman S; Har-Zahav A; Birk E; Maya I; Kornreich L; Inbar D; Nürnberg G; Nürnberg P; Steinberg T; Straussberg R
Pediatr Neurol; 2012 Jun; 46(6):363-8. PubMed ID: 22633631
[TBL] [Abstract][Full Text] [Related]
16. Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy.
Tunc T; Mungan IA; Okulu E; Tiras ST; Tekin M; Atasay B; Arsan S; Turmen T
Genet Couns; 2009; 20(3):275-9. PubMed ID: 19852435
[TBL] [Abstract][Full Text] [Related]
17. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.
Dick KJ; Al-Mjeni R; Baskir W; Koul R; Simpson MA; Patton MA; Raeburn S; Crosby AH
Neurology; 2008 Jul; 71(4):248-52. PubMed ID: 18463364
[TBL] [Abstract][Full Text] [Related]
18. The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients.
Mendez HM; Paskulin GA; Vallandro C
Am J Med Genet; 1985 Oct; 22(2):223-8. PubMed ID: 4050854
[TBL] [Abstract][Full Text] [Related]
19. Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes.
Müller FM; Barth GM; Menger H; Spranger J
Am J Med Genet; 1993 Oct; 47(5):698-701. PubMed ID: 8266998
[TBL] [Abstract][Full Text] [Related]
20. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Yanagisawa A; Bouchet C; Van den Bergh PY; Cuisset JM; Viollet L; Leturcq F; Romero NB; Quijano-Roy S; Fardeau M; Seta N; Guicheney P
Neurology; 2007 Sep; 69(12):1254-60. PubMed ID: 17634419
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
