Syndromic XLMR genes (MRXS): Update 2000

American Journal of Medical Genetics

Volumn 94, Issue 5, 2000, Pages 361-363

  Hamel, Ben C J ^a   Chiurazzi, Pietro ^b   Lubs, Herbert A ^c  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY OF MIAMI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; REVIEW; X CHROMOSOME LINKED DISORDER;

HUMANS; LINKAGE (GENETICS); MENTAL RETARDATION; SYNDROME; X CHROMOSOME;

EID: 0034706402     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001023)94:5<361::AID-AJMG2>3.0.CO;2-U     Document Type: Review

References (39)

1. Carpenter-Waziri syndrome results from a mutation in XNP
2. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
3. X-linked pachygyria and agenesis of corpus callosum in two generations: A new CNS migration disorder
4. Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1
5. Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome
6. A new X-linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localizes to Xq24-q25
7. X-linked mental retardation syndrome with characteristic 'coarse' facial appearance, brachydactyly, and short stature maps to proximal Xq
8. X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localized to Xq24-q27
9. Letter to editor: A new X-linked mental retardation syndrome
10. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
11. A family with X-linked epilepsy mapping to Xp11-Xq13
12. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
13. New X-linked MR/MCA syndrome associated with cleft lip/palate, upslanted/short palpebral fissures, high nasal bridge, prominent nasal tip, inguinal hernia and minor digital defects
14. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
15. X-linked intellectual handicap and precocious puberty with obesity in carrier females
16. A new X-linked mental retardation syndrome
17. X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26
18. Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: Demonstration that the mutation is involved in the inactivation bias
19. XLMR genes: Update 1996
20. XLMR genes: Update 1998
21. Genetic localization of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers
22. Unbalanced cryptic t(1q;12p) translocation in an apparently X-linked syndrome with pachygyria, mental retardation and hypogenitalism
23. A new X-linked mental retardation syndrome with distal limb defects, hearing impairment, verrucosis and immunodeficiency
24. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
25. VACTERL-H features associated with a deletion of ZIC3 in Xq26.2
26. X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq 27.2 in one family
27. Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity, and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): New X-linked syndrome?
28. A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp 11
29. A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness
30. A mutation in XNP results in the Holmes-Gang syndrome: Further evidence that mutations in XNP may account for a relatively large fraction of mental retardation in males
31. A unique X-linked mental retardation syndrome with characteristic phenotype
32. Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31
33. X-linked recessive microcephaly, microphthalmia with corneal opacities, spastic quadriplegia, hypospadias and cryptorchidism
34. MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: Assignment of disease locus to Xp21.1-p22.13
35. Refined gene localization for the Miles-Carpenter syndrome (MCS)
36. Nance-Horan syndrome: Linkage analysis in 4 families refines localization in Xp22.31-p 22.13 region
37. Identification of a mutation in the XNP/ATR-X gane in a family reported as Smith-Fineman-Myers syndrome
38. Non-specific X-linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11
39. A new X-linked syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria