Simpson-Golabi-Behmel syndrome types I and II. (Q34623852)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25238977%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

review article

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title

Simpson-Golabi-Behmel syndrome types I and II (English)

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16 February 2020

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congenital heart disease

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intellectual disability

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Simpson-Golabi-Behmel syndrome

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1

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16 February 2020

Pedro Arias

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16 February 2020

Victor Martínez-Glez

3

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16 February 2020

author name string

Fernando Santos

4

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16 February 2020

Sixto García-Miñaur

5

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16 February 2020

Julián Nevado

6

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16 February 2020

Pablo Lapunzina

7

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16 February 2020

language of work or name

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20 September 2014

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Orphanet Journal of Rare Diseases

16 February 2020

published in

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16 February 2020

volume

9

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16 February 2020

page(s)

138

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Creative Commons Attribution

16 February 2020

copyright license

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on focus list of Wikimedia project

ScienceSource

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exact match

https://scigraph.springernature.com/pub.10.1186/s13023-014-0138-0

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cites work

Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

The role of glypicans in Hedgehog signaling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Dally-like core protein and its mammalian homologues mediate stimulatory and inhibitory effects on Hedgehog signal response

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Index finger abnormalities in Simpson-Golabi-Behmel syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

The tongue-base suspension using Repose™ bone screw system in a child with Simpson–Golabi–Behmel syndrome. Case report

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Diffuse neonatal hemangiomatosis associated with Simpson-Golabi-Behmel syndrome: a case report

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Cardiac anomalies in the Simpson-Golabi-Behmel syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

OCI-5/rat glypican-3 binds to fibroblast growth factor-2 but not to insulin-like growth factor-2.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

A new X-linked mental retardation-overgrowth syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome.

7 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0138-0

A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0138-0

A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0138-0

Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0138-0

Expanding the clinical picture of Simpson-Golabi-Behmel syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0138-0

Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0138-0

Speech and language in Simpson-Golabi-Behmel syndrome: a case report.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Simpson-Golabi-Behmel syndrome and attention deficit hyperactivity disorder in two brothers.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254265

Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families

26 October 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0138-0

Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0138-0

Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0138-0

Simpson-Golabi-Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2-4 Duplication of theGPC3Gene

21 January 2018

1 reference

12 December 2020

A case of nondiabetic macrosomia with Simpson-Golabi-Behmel syndrome: antenatal sonographic findings

1 reference

12 December 2020

A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?

1 reference

12 December 2020

Craniofacial morphology in a patient with Simpson-Golabi-Behmel syndrome

1 reference

12 December 2020

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia

1 reference

12 December 2020

Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein

1 reference

12 December 2020

New airway and swallow manifestations of Simpson-Golabi-Behmel syndrome

1 reference

12 December 2020

Hepatic vascular malformation in a patient with Simpson-Golabi-Behmel syndrome

1 reference

12 December 2020

A previously unrecognized X-linked syndrome of dysmorphia

1 reference

12 December 2020

Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation

1 reference

12 December 2020

Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome

1 reference

12 December 2020

Choledochal cyst in Simpson-Golabi-Behmel syndrome

1 reference

12 December 2020

Multiple odontogenic keratocysts in mental retardation-overgrowth (Simpson-Golabi-Behmel) syndrome

1 reference

12 December 2020

SECOND CASE OF HEPATOBLASTOMA IN A YOUNG PATIENT WITH SIMPSON-GOLABI-BEHMEL SYNDROME

1 reference

12 December 2020

Germinal mosaicism in Simpson-Golabi-Behmel syndrome

1 reference

12 December 2020

Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation

1 reference

12 December 2020

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome

1 reference

12 December 2020

Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families

1 reference

12 December 2020

Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child

1 reference

12 December 2020

Simpson-Golabi-Behmel syndrome associated with cleft palate

1 reference

12 December 2020

Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis

1 reference

12 December 2020

10.1186/S13023-014-0138-0

Identifiers

DOI

1 reference

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Dimensions Publication ID

16 February 2020

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25238977%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25238977%20AND%20SRC:MED&resulttype=core&format=json