(Q40392044)

20 September 2017

1 reference

title

Six cases of 7p deletion: clinical, cytogenetic, and molecular studies (English)

1 reference

20 September 2017

Six cases of 7p deletion: Clinical, cytogenetic, and molecular studies (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

chromosomal deletion syndrome

14 May 2024

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521123

14 May 2024

3

L. van Herwerden

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521123

14 May 2024

author name string

K. A. Chotai

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521123

14 May 2024

L. A. Brueton

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521123

14 May 2024

C. Garrett

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521123

14 May 2024

G. K. Hinkel

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521123

14 May 2024

A. Schinzel

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521123

14 May 2024

R. F. Mueller

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521123

14 May 2024

F. Speleman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521123

14 May 2024

R. M. Winter

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521123

14 May 2024

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=7521123

14 May 2024

publication date

1 July 1994

1 reference

full work available at URL

20 September 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320510320

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.1320510320

14 May 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

American Journal of Medical Genetics Part A

14 May 2024

published in

1 reference

20 September 2017

volume

51

1 reference

20 September 2017

issue

3

1 reference

20 September 2017

page(s)

270-276

1 reference

Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.

20 September 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Deletions of the short arm of chromosome 7 without craniosynostosis.

14 May 2024

2

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Clinical, chromosomal and enzymatic studies in four cases of rearrangements of chromosome 7.

14 May 2024

3

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Interstitial deletion of the short arm of chromosome 7 without craniosynostosis

14 May 2024

4

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13.

14 May 2024

5

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p

14 May 2024

6

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities

14 May 2024

7

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Terminal 7p deletion and 1;7 translocation associated with craniosynostosis

14 May 2024

8

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

A genetic linkage map of the human genome.

14 May 2024

9

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Regional and physical mapping studies characterizing the Greig polysyndactyly 3;7 chromosome translocation, t(3;7)(p21.1;p13).

14 May 2024

10

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

14 May 2024

11

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

De novo partial 2q3 trisomy/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis

14 May 2024

13

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

7p deletion syndrome: an adult with mild manifestations

14 May 2024

15

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Is loss of band 7p21 really critical for manifestation of craniosynostosis in 7p-?

14 May 2024

18

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Hemihypotrophy in a girl with a translocation t(13q;7p)

14 May 2024

20

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome

14 May 2024

22

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 → 7p21

14 May 2024

23

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Chromosome 7 short-arm interstitial deletion (p14)

14 May 2024

24

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21.

14 May 2024

25

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13.

14 May 2024

28

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

14 May 2024

32

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes

14 May 2024

33

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Giant satellites or translocation?

14 May 2024

34

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7

14 May 2024

35

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

Ring chromosome 7 with variable phenotypic expression

14 May 2024

37

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320510320

14 May 2024

Identifiers

1 reference

20 September 2017

1 reference