(Q33637874)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

Margherita Cirillo Silengo

21 January 2020

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Liborio Stuppia

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Bruno Dallapiccola

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Marco Tartaglia

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Claudio Carta

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Viviana Cordeddu

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

C Rossi

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Laura Mazzanti

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

Giovanni Battista Ferrero

21 January 2020

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

6

Francesca Pantaleoni

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

author name string

Anna Sarkozy

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Sonia Moretti

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Giuseppe Zampino

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Maria C Digilio

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Anna Paola Scioletti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Giorgia Esposito

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Valentina Petrangeli

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Maria L Dentici

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Grazia M S Mancini

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Angelo Selicorni

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Bruno Marino

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Luigi Memo

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Franco Stanzial

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Francesca Faravelli

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Efisio Puxeddu

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Bruce D Gelb

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

publication date

1 April 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

page(s)

695-702

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

21 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Hyperactive Ras in developmental disorders and cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

New insight into BRAF mutations in cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

The cardiofaciocutaneous syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Germline KRAS mutations cause Noonan syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Expression of endogenous oncogenic V600EB-raf induces proliferation and developmental defects in mice and transformation of primary fibroblasts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Germline mutations in HRAS proto-oncogene cause Costello syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Noonan syndrome and related disorders: genetics and pathogenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

The RAF proteins take centre stage

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Mutations of the BRAF gene in human cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Biological properties of human c-Ha-ras1 genes mutated at codon 12.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

erbB-2 is a potent oncogene when overexpressed in NIH/3T3 cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Multiple lentigines syndrome. Case report and review of the literature

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

28 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20955

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20955

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20955

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20955

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Biochemical and functional characterization of germ line KRAS mutations

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Prognostic, therapeutic, and mechanistic implications of a mouse model of leukemia evoked by Shp2 (PTPN11) mutations.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

PTPN11 mutations in LEOPARD syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028130

30 October 2018

1 reference

12 December 2020

Clinical and molecular studies in a large Dutch family with Noonan syndrome

1 reference

PubMed

12 December 2020

Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype

1 reference

PubMed

12 December 2020

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome

1 reference

PubMed

12 December 2020

Multiple lentigines syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20955

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.20955

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19206169%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference