(Q40465539)

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Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

scientific article published on May 22, 1995

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Europe PubMed Central

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20 September 2017

Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families (English)

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10.1002/AJMG.1320570122

https://api.crossref.org/works/10.1002/AJMG.1320570122

11 July 2024

Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families (English)

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11 July 2024

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C. Schrander-Stumpel

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11 July 2024

C. Höweler

2

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11 July 2024

M. Jones

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11 July 2024

A. Sommer

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11 July 2024

C. Stevens

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11 July 2024

S. Tinschert

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11 July 2024

J. Israel

7

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11 July 2024

J. P. Fryns

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11 July 2024

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1 May 1995

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20 September 2017

22 May 1995

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7645588

11 July 2024

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https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002/ajmg.1320570122

1 reference

10.1002/AJMG.1320570122

https://api.crossref.org/works/10.1002/AJMG.1320570122

11 July 2024

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.1320570122

1 reference

10.1002/AJMG.1320570122

https://api.crossref.org/works/10.1002/AJMG.1320570122

11 July 2024

American Journal of Medical Genetics Part A

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Europe PubMed Central

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20 September 2017

57

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Europe PubMed Central

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20 September 2017

1

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Europe PubMed Central

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20 September 2017

107-116

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Europe PubMed Central

PubMed publication ID

20 September 2017

HEREDITARY PARTIAL AGENESIS OF CORPUS CALLOSUM; BIOCHEMICAL AND PATHOLOGICAL STUDIES.

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320570122

21 January 2018

Linkage to Xq28 in a family with nonspecific X-linked mental retardation

1 reference

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21 January 2018

Familial aqueductal stenosis and basilar impression

1 reference

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21 January 2018

The MASA syndrome: A new heritable mental retardation syndrome

3

1 reference

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11 July 2024

Hereditary cerebral palsy; a preliminary report

4

1 reference

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11 July 2024

X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus

5

1 reference

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11 July 2024

The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man.

10

1 reference

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11 July 2024

The syndrome of sex-linked hydrocephalus

11

1 reference

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11 July 2024

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene

13

1 reference

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11 July 2024

Cranio-carpo-tarsal dystrophy

14

1 reference

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11 July 2024

X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28

16

1 reference

10.1002/AJMG.1320570122

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11 July 2024

MASA syndrome: delineation of the clinical spectrum at prepubertal age.

17

1 reference

10.1002/AJMG.1320570122

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11 July 2024

X-linked mental retardation associated with bilateral clasp thumb anomaly

18

1 reference

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11 July 2024

Localisation of the MRX3 gene for non-specific X linked mental retardation

19

1 reference

10.1002/AJMG.1320570122

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11 July 2024

X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype

20

1 reference

10.1002/AJMG.1320570122

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11 July 2024

X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia

21

1 reference

10.1002/AJMG.1320570122

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11 July 2024

Hydrocephalus and congenital clasped thumbs: a case report with electromyographic evaluation

23

1 reference

10.1002/AJMG.1320570122

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11 July 2024

Sex-linked Hydrocephalus

24

1 reference

10.1002/AJMG.1320570122

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11 July 2024

Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

26

1 reference

10.1002/AJMG.1320570122

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11 July 2024

A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)

27

1 reference

10.1002/AJMG.1320570122

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11 July 2024

X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family

29

1 reference

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11 July 2024

X linked recessive inheritance of agenesis of the corpus callosum

30

1 reference

10.1002/AJMG.1320570122

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11 July 2024

X-linked recessive aqueductal stenosis without macrocephaly

31

1 reference

10.1002/AJMG.1320570122

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11 July 2024

Linkage studies of X-linked recessive spastic paraplegia using DNA probes

32

1 reference

10.1002/AJMG.1320570122

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11 July 2024

X-linked hydrocephalus

36

1 reference

10.1002/AJMG.1320570122

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11 July 2024

Aqueductal Stenosis in X-Linked Hydrocephalus: a Secondary Phenomenon?

37

1 reference

10.1002/AJMG.1320570122

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11 July 2024

Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28.

38

1 reference

10.1002/AJMG.1320570122

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11 July 2024

The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.

39

1 reference

10.1002/AJMG.1320570122

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11 July 2024

Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28.

40

1 reference

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11 July 2024

XLMR genes: update 1994

45

1 reference

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11 July 2024

FG syndrome update 1988: note of 5 new patients and bibliography

47

1 reference

10.1002/AJMG.1320570122

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11 July 2024

MASA syndrome: clinical variability and linkage analysis

49

1 reference

10.1002/AJMG.1320570122

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11 July 2024

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

50

1 reference

10.1002/AJMG.1320570122

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11 July 2024

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

52

1 reference

10.1002/AJMG.1320570122

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11 July 2024

MASA syndrome: new clinical features and linkage analysis using DNA probes

53

1 reference

10.1002/AJMG.1320570122

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11 July 2024

55

1 reference

10.1002/AJMG.1320570122

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11 July 2024

MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families

56

1 reference

10.1002/AJMG.1320570122

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11 July 2024

X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

58

1 reference

10.1002/AJMG.1320570122

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11 July 2024

Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence using closely linked DNA markers

59

1 reference

10.1002/AJMG.1320570122

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11 July 2024

X-linked hydrocephalus

60

1 reference

10.1002/AJMG.1320570122

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11 July 2024

X-linked mental retardation with bilateral clasped thumbs: report of another affected family

62

1 reference

10.1002/AJMG.1320570122

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11 July 2024

X-linked spastic paraplegia

63

1 reference

10.1002/AJMG.1320570122

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11 July 2024

A duplication in the L1CAM gene associated with X-linked hydrocephalus

64

1 reference

10.1002/AJMG.1320570122

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11 July 2024

Prenatal diagnosis of X-linked hydrocephaly

65

1 reference

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Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis

66

1 reference

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11 July 2024

X-linked hydrocephalus. Further observations

67

1 reference

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11 July 2024

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

68

1 reference

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11 July 2024

X-linked hydrocephalus

72

1 reference

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Assignment of X-linked hydrocephalus to Xq28 by linkage analysis

73

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Agenesis of the corpus callosum in two brothers

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1 reference

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MASA syndrome: further clinical delineation and chromosomal localisation

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Mental retardation-clasped thumb syndrome

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X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg

78

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11 July 2024

Identifiers

10.1002/AJMG.1320570122

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

20 September 2017

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