(Q43232496)

16 November 2017

0 references

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients (English)

1 reference

16 November 2017

0 references

Palma Finelli

6

0 references

Gioacchino Scarano

17

object named as

Gioacchino Scarano

1 reference

16 November 2017

8

Elisabetta Lapi

1 reference

16 November 2017

7

Sabrina Giglio

1 reference

16 November 2017

19

Orsetta Zuffardi

1 reference

16 November 2017

Lucia Ballarati

1

1 reference

16 November 2017

Elena Rossi

2

1 reference

16 November 2017

Maria Teresa Bonati

3

1 reference

16 November 2017

Stefania Gimelli

4

1 reference

16 November 2017

Paola Maraschio

5

1 reference

16 November 2017

Maria Francesca Bedeschi

9

1 reference

16 November 2017

Silvana Guerneri

10

1 reference

16 November 2017

Giulia Arrigo

11

1 reference

16 November 2017

Maria Grazia Patricelli

12

1 reference

16 November 2017

Teresa Mattina

13

1 reference

16 November 2017

Oriana Guzzardi

14

1 reference

16 November 2017

Vanna Pecile

15

1 reference

16 November 2017

Adalgisa Police

16

1 reference

16 November 2017

Lidia Larizza

18

1 reference

16 November 2017

Daniela Giardino

20

1 reference

16 November 2017

language of work or name

English

0 references

publication date

1 January 2007

1 reference

Journal of Medical Genetics

16 November 2017

1 reference

16 November 2017

44

1 reference

16 November 2017

1

1 reference

16 November 2017

e60

1 reference

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

16 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Prenatal diagnosis of 13q-syndrome in a fetus with Dandy-Walker malformation.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

The ZIC gene family in development and disease.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Ephrin-B2 and EphB1 mediate retinal axon divergence at the optic chiasm

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Hand involvement in 13q deletion syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

13q deletion syndrome in an adult mentally retarded patient.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Retinoblastoma: host resistance and 13q- chromosomal deletion.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

The 13q-deletion syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Reciprocal translocations: a trap for cytogenetists?

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597907

Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3.

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17209130

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17209130

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17209130

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2006.043059

1 reference

16 November 2017

1 reference

16 November 2017

PubMed publication ID

17209130

1 reference