(Q41114082)

English

Transvaginal sonographic detection of adducted thumbs, hydrocephalus, and agenesis of the corpus callosum at 22 postmenstrual weeks: the masa spectrum or L1 spectrum. A case report and review of the literature

scientific article published on June 1996

In more languages

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scholarly article

1 reference

Europe PubMed Central

26 September 2017

1 reference

Europe PubMed Central

Transvaginal sonographic detection of adducted thumbs, hydrocephalus, and agenesis of the corpus callosum at 22 postmenstrual weeks: the masa spectrum or L1 spectrum. A case report and review of the literature (English)

1 reference

Europe PubMed Central

26 September 2017

0 references

0 references

agenesis of the corpus callosum

1 reference

based on heuristic

inferred from title

Ilan E. Timor-Tritsch

1

1 reference

Europe PubMed Central

26 September 2017

2

object named as

Monteagudo A

1 reference

Europe PubMed Central

26 September 2017

author name string

Haratz-Rubinstein N

3

1 reference

Europe PubMed Central

26 September 2017

Levine RU

4

1 reference

Europe PubMed Central

26 September 2017

publication date

1 June 1996

1 reference

Europe PubMed Central

26 September 2017

Prenatal Diagnosis

1 reference

Europe PubMed Central

26 September 2017

16

1 reference

Europe PubMed Central

26 September 2017

6

1 reference

Europe PubMed Central

26 September 2017

543-548

1 reference

Europe PubMed Central

26 September 2017

The syndrome of sex-linked hydrocephalus

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

Sex-linked hydrocephalus. Report of a family with 15 affected members

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

X-linked mental retardation associated with bilateral clasp thumb anomaly.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

Assessment and management of fetal agenesis of the corpus callosum.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

Molecular structure and functional testing of human L1CAM: an interspecies comparison

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

Nomograms of the fetal lateral ventricles using transvaginal sonography.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

Sonography of fetal agenesis of the corpus callosum: a survey of 35 cases.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

Congenital clasped thumb: a review of forty-three cases

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

MASA syndrome: further clinical delineation and chromosomal localisation

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

Mental retardation-clasped thumb syndrome.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

The MASA syndrome: A new heritable mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

In utero detection of ventriculomegaly during the second and third trimesters by transvaginal sonography

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199606%2916%3A6%3C543%3A%3AAID-PD878%3E3.0.CO%3B2-I

21 January 2018

Identifiers

10.1002/(SICI)1097-0223(199606)16:6<543::AID-PD878>3.0.CO;2-I

1 reference

Europe PubMed Central

26 September 2017

1 reference

Europe PubMed Central

26 September 2017

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