(Q44764569)

English

Muenke syndrome

scientific article published on 10 February 2004

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

Muenke syndrome. (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

author name string

G Sabatino

1

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

F Di Rocco

2

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

G Zampino

3

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

G Tamburrini

4

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

M Caldarelli

5

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

C Di Rocco

6

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

publication date

10 February 2004

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

Child's Nervous System

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

20

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

297-301

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

https://scigraph.springernature.com/pub.10.1007/s00381-003-0906-y

0 references

The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonpenetrance in FGFR3-associated coronal synostosis syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis of bilateral coronal synostosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The incidence of isolated craniosynostosis in the newborn infant.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deafness due to Pro250Arg mutation of FGFR3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Craniosynostosis syndromes: from genes to premature fusion of skull bones

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14963686

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00381-003-0906-Y

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q44764569&oldid=2039467983"