(Q51902519)

17 April 2018

title

An emerging phenotype of proximal 11q deletions (English)

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

17 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20688202

chromosomal deletion syndrome

17 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20688202

17 June 2024

9

Lucio Nitsch

1 reference

17 April 2018

Daniela Melis

1

object named as

Daniela Melis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20688202

17 June 2024

author name string

Rita Genesio

2

1 reference

17 April 2018

Mariarosaria Cozzolino

3

1 reference

17 April 2018

Ennio Del Giudice

4

1 reference

17 April 2018

Angela Mormile

5

1 reference

17 April 2018

Floriana Imperati

6

1 reference

17 April 2018

Valentina Ronga

7

1 reference

17 April 2018

Roberto Della Casa

8

1 reference

17 April 2018

Generoso Andria

10

1 reference

17 April 2018

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=20688202

17 June 2024

publication date

3 August 2010

1 reference

17 April 2018

full work available at URL

https://api.elsevier.com/content/article/PII:S1769721210000777?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

https://api.elsevier.com/content/article/PII:S1769721210000777?httpAccept=text/plain

17 June 2024

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

European Journal of Medical Genetics

17 June 2024

published in

1 reference

17 April 2018

volume

53

1 reference

17 April 2018

issue

5

1 reference

17 April 2018

page(s)

340-343

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17 April 2018

The mammalian Odz gene family: homologs of a Drosophila pair-rule gene with expression implying distinct yet overlapping developmental roles

cites work

1

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

Wnt signaling in eye organogenesis

17 June 2024

2

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

17 June 2024

3

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

Ocular coloboma: a reassessment in the age of molecular neuroscience

17 June 2024

4

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients

17 June 2024

5

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.

17 June 2024

7

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

17 June 2024

8

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

Vascular changes associated with chorioretinal and optic nerve colobomas in rats (Crj: CD(SD), IGS).

17 June 2024

9

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases

17 June 2024

10

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling

17 June 2024

11

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

Coloboma of the optic disk associated with retinal vascular abnormalities

17 June 2024

12

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review

17 June 2024

13

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay

17 June 2024

14

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes

17 June 2024

15

1 reference

https://api.crossref.org/works/10.1016/J.EJMG.2010.07.010

17 June 2024

Identifiers

1 reference

17 April 2018

1 reference

17 April 2018