428 related articles for article (PubMed ID: 10465117)
1. Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?
Mégarbané A; Choueiri R; Bleik J; Mezzina M; Caillaud C
J Med Genet; 1999 Aug; 36(8):637-40. PubMed ID: 10465117
[TBL] [Abstract][Full Text] [Related]
2. Warburg micro syndrome in two children from a highly inbred Turkish family.
Yildirim MS; Zamani AG; Bozkurt B
Genet Couns; 2012; 23(2):169-74. PubMed ID: 22876574
[TBL] [Abstract][Full Text] [Related]
3. X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome.
Seemanová E; Lesný I
Am J Med Genet; 1996 Dec; 66(2):179-83. PubMed ID: 8958326
[TBL] [Abstract][Full Text] [Related]
4. Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.
Bitoun P; Martin-Pont B; Tamboise E; Gaudelus J
Ann Genet; 1994; 37(2):75-7. PubMed ID: 7985982
[TBL] [Abstract][Full Text] [Related]
5. New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
Morris-Rosendahl DJ; Segel R; Born AP; Conrad C; Loeys B; Brooks SS; Müller L; Zeschnigk C; Botti C; Rabinowitz R; Uyanik G; Crocq MA; Kraus U; Degen I; Faes F
Eur J Hum Genet; 2010 Oct; 18(10):1100-6. PubMed ID: 20512159
[TBL] [Abstract][Full Text] [Related]
6. A new case of Martsolf syndrome.
Bora E; Cankaya T; Alpman A; Karaca E; Cogulu O; Tekgul H; Ozkinay F
Genet Couns; 2007; 18(1):71-5. PubMed ID: 17515302
[TBL] [Abstract][Full Text] [Related]
7. Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder.
Martínez-Frías ML; Martín M; Pardo M; Fernandez de las Heras F; Frías JL
Am J Med Genet; 1995 Jan; 55(2):213-6. PubMed ID: 7717420
[TBL] [Abstract][Full Text] [Related]
8. Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation.
Mégarbané A
Am J Med Genet A; 2003 Feb; 116A(4):381-4. PubMed ID: 12522796
[TBL] [Abstract][Full Text] [Related]
9. Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.
Verloes A; Dodinval P; Beco L; Bonnivert J; Lambotte C
Am J Med Genet; 1990 Sep; 37(1):119-23. PubMed ID: 2240028
[TBL] [Abstract][Full Text] [Related]
10. An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria.
Knerr I; Zschocke J; Schellmoser S; Topf HG; Weigel C; Dötsch J; Rascher W
BMC Pediatr; 2005 Apr; 5(1):5. PubMed ID: 15811181
[TBL] [Abstract][Full Text] [Related]
11. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
Martínez-Garay I; Tomás M; Oltra S; Ramser J; Moltó MD; Prieto F; Meindl A; Kutsche K; Martínez F
Eur J Hum Genet; 2007 Jan; 15(1):29-34. PubMed ID: 17033686
[TBL] [Abstract][Full Text] [Related]
12. Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
Gumus E
Ophthalmic Genet; 2018 Jun; 39(3):391-395. PubMed ID: 29419336
[TBL] [Abstract][Full Text] [Related]
13. Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome?
Mégarbané A; Ghanem I; Romana S; Gosset P; Caillaud C
Genet Couns; 2002; 13(2):123-31. PubMed ID: 12150211
[TBL] [Abstract][Full Text] [Related]
14. New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation.
Tsukahara M; Sugio Y
J Hum Genet; 1998; 43(4):224-7. PubMed ID: 9852671
[TBL] [Abstract][Full Text] [Related]
15. Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.
Warburg M; Sjö O; Fledelius HC; Pedersen SA
Am J Dis Child; 1993 Dec; 147(12):1309-12. PubMed ID: 8249951
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic.
Goyal R; Thompson D; Timms C; Wilson LC; Russell-Eggitt I
Eye (Lond); 2008 Feb; 22(2):273-81. PubMed ID: 17975563
[TBL] [Abstract][Full Text] [Related]
18. An oculocerebrofacial syndrome.
Kaufman RL; Rimoin DL; Prensky AL; Sly WS
Birth Defects Orig Artic Ser; 1971 Feb; 7(1):135-8. PubMed ID: 5006210
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.
Hozhabri H; Talebi M; Mehrjardi MYV; De Luca A; Dehghani M
Am J Med Genet A; 2020 May; 182(5):957-961. PubMed ID: 32162791
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
