(Q68296971)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673314%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

title

Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673314%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter Syndrome (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

25 October 2022

1 reference

M. A. Voelckel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673314

25 October 2022

M. C. Pellissier

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673314

25 October 2022

C. Piquet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673314

25 October 2022

C. N'Guyen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673314

25 October 2022

I. Boccaccio

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673314

25 October 2022

N. Philip

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673314

25 October 2022

J. F. Mattei

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673314

25 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1673314

25 October 2022

publication date

1 February 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673314%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

23 September 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320380243

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320380243

25 October 2022

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

American Journal of Medical Genetics Part A

25 October 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673314%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673314%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

issue

2-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673314%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

page(s)

374-377

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673314%20AND%20SRC:MED&resulttype=core&format=json

"Fragile X" syndrome and its puzzling genetics

23 September 2019

cites work

1

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

Genetic linkage heterogeneity in the fragile X syndrome

25 October 2022

2

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

DNA linkage studies in the fragile X syndrome suggest genetic heterogeneity

25 October 2022

3

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

Further evidence for genetic heterogeneity in the fragile X syndrome.

25 October 2022

4

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

American journal of mental deficiency

25 October 2022

5

67

827

Dunn

1983

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

Replication pattern in XXY cells with fra(X)

25 October 2022

6

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

Klinefelter syndrome and two fragile X chromosomes

25 October 2022

7

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

Genetic heterogeneity of X-linked mental retardation with fragile X. Association of tight linkage to factor IX and incomplete penetrance in males.

25 October 2022

8

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

Phenotypic variation in male-transmitted fragile X: genetic inferences.

25 October 2022

9

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

Expression in lymphocyte and fibroblast culture of the fragile X chromosome: A new technical approach

25 October 2022

11

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

Martin-Bell syndrome in Greece, with report of another 47,XXY fragile X patient

25 October 2022

12

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

The New England Journal of Medicine

25 October 2022

14

305

1348

Nielsen

1981

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

Mapping of DNA markers close to the fragile site on the human X chromosome at Xq27.3.

25 October 2022

16

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

25 October 2022

18

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

The marker (X) syndrome: a cytogenetic and genetic analysis.

25 October 2022

19

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

The New England Journal of Medicine

25 October 2022

20

296

1415

Sutherland

1977

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

X-Linked mental retardation with macro-orchidism and the fragile site at Xq27 or 28

25 October 2022

21

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

X-linked mental retardation associated with macro-orchidism

25 October 2022

22

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation

25 October 2022

24

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation

25 October 2022

25

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320380243

25 October 2022

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673314%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference