(Q24647431)

Francesca Mari

13

0 references

Vania Broccoli

Vania Broccoli

14

0 references

Ilaria Meloni

Ilaria Meloni

11

0 references

Francesca Ariani

Francesca Ariani

1

0 references

Alessandra Renieri

Alessandra Renieri

16

0 references

Joussef Hayek

1 reference

ORCID Public Data File 2021

author name string

Giuseppe Hayek

2

0 references

Dalila Rondinella

3

0 references

Rosangela Artuso

4

0 references

Maria Antonietta Mencarelli

5

0 references

Ariele Spanhol-Rosseto

6

0 references

Marzia Pollazzon

7

0 references

Sabrina Buoni

8

0 references

Ottavia Spiga

9

0 references

Ilaria Longo

12

0 references

Michele Zappella

American Journal of Human Genetics

15

0 references

language of work or name

English

0 references

publication date

July 2008

0 references

published in

0 references

volume

83

0 references

issue

1

0 references

page(s)

89-93

0 references

cites work

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

The winged-helix protein brain factor 1 interacts with groucho and hes proteins to repress transcription

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Integration of Smad and forkhead pathways in the control of neuroepithelial and glioblastoma cell proliferation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

The story of Rett syndrome: from clinic to neurobiology

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Foxg1 is required for specification of ventral telencephalon and region-specific regulation of dorsal telencephalic precursor proliferation and apoptosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Brain factor-1 controls the proliferation and differentiation of neocortical progenitor cells through independent mechanisms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

The timing of cortical neurogenesis is encoded within lineages of individual progenitor cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Telencephalon-restricted expression of BF-1, a new member of the HNF-3/fork head gene family, in the developing rat brain

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Preserved speech variant is allelic of classic Rett syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Rett syndrome: report of eight cases

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Cerebellar and cerebral abnormalities in Rett syndrome: a quantitative MR analysis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

The role of Foxg1 and dorsal midline signaling in the generation of Cajal-Retzius subtypes.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Italian Rett database and biobank.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Rett syndrome in Spain: mutation analysis and clinical correlations

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

Rett variants: a suggested model for inclusion criteria.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2443837

An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18571142

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Rett syndrome in adolescent and adult females: clinical and molecular genetic findings

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18571142

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MECP2 deletions and genotype-phenotype correlation in Rett syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18571142

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.05.015

1 reference

1 reference

1 reference

PubMed publication ID

18571142

1 reference