(Q37308862)

English

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

scientific article published on 14 July 2015

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

genotype-phenotype correlation

1 reference

based on heuristic

inferred from title

Noonan syndrome

1 reference

based on heuristic

inferred from title

pulmonic stenosis

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

object named as

Gary Bellus

16

0 references

Vinodh Narayanan

object named as

Vinodh Narayanan

43

0 references

object named as

Vinod K Misra

41

0 references

object named as

Ian M Frayling

29

0 references

66

object named as

Elaine Zackai

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

68

object named as

Conxi Lazaro

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

69

object named as

Kathleen Claes

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Ludwine Messiaen

73

object named as

Ludwine Messiaen

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

32

object named as

Karen W Gripp

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

author name string

Kitiwan Rojnueangnit

1

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Jing Xie

2

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Alicia Gomes

3

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Angela Sharp

4

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Tom Callens

5

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Yunjia Chen

6

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Ying Liu

7

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Meagan Cochran

8

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Mary-Alice Abbott

9

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Joan Atkin

10

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Dusica Babovic-Vuksanovic

11

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Christopher P Barnett

12

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Melissa Crenshaw

13

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Dennis W Bartholomew

14

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Lina Basel

15

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Shay Ben-Shachar

17

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Martin G Bialer

18

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

David Bick

19

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Bruce Blumberg

20

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Fanny Cortes

21

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Karen L David

22

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Anne Destree

23

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Anna Duat-Rodriguez

24

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Dawn Earl

25

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Luis Escobar

26

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Marthanda Eswara

27

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Begona Ezquieta

28

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Moshe Frydman

30

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Kathy Gardner

31

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Concepcion Hernández-Chico

33

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Kurt Heyrman

34

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Jennifer Ibrahim

35

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Sandra Janssens

36

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Beth A Keena

37

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Isabel Llano-Rivas

38

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Kathy Leppig

39

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Marie McDonald

40

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Jennifer Mulbury

42

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Naama Orenstein

44

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Patricia Galvin-Parton

45

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Helio Pedro

46

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Eniko K Pivnick

47

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Cynthia M Powell

48

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Linda Randolph

49

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Salmo Raskin

50

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Jordi Rosell

51

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Karol Rubin

52

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Margretta Seashore

53

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Christian P Schaaf

54

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Angela Scheuerle

55

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Meredith Schultz

56

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Elizabeth Schorry

57

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Rhonda Schnur

58

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Elizabeth Siqveland

59

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Amanda Tkachuk

60

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

James Tonsgard

61

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Meena Upadhyaya

62

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Ishwar C Verma

63

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Stephanie Wallace

64

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Charles Williams

65

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Jonathan Zonana

67

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Bruce Korf

70

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Yolanda Martin

71

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Eric Legius

72

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

publication date

14 July 2015

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

36

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

11

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

1052-1063

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Review and update of SPRED1 mutations causing Legius syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Legius syndrome in fourteen families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Natural history and outcome of optic pathway gliomas in children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

High-resolution melting analysis (HRMA): more than just sequence variant screening.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Genetic influences on the difference in variability of height, weight and body mass index between Caucasian and East Asian adolescent twins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Elevated risk for MPNST in NF1 microdeletion patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Neurofibromatosis type 1 and sporadic optic gliomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

A clinical study of type 1 neurofibromatosis in north west England

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

A prospective 10 year follow up study of patients with neurofibromatosis type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

6 September 2017

Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

14 September 2017

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

14 September 2017

A highly sensitive genetic protocol to detect NF1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

26 June 2018

Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

26 June 2018

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

26 June 2018

Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

26 June 2018

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

Height of South Asian children in the Netherlands aged 0-20 years: secular trends and comparisons with current Asian Indian, Dutch and WHO references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

Growth, puberty, and endocrine functions in patients with sporadic or familial neurofibromatosis type 1: a longitudinal study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

Head circumference from birth to eighteen years. Practical composite international and interracial graphs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5049609

2 September 2018

Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22832

21 January 2018

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22832

21 January 2018

Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22832

21 January 2018

New growth charts for Taiwanese children and adolescents based on World Health Organization standards and health-related physical fitness

1 reference

https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Asymptomatic Chiari Type I malformations identified on magnetic resonance imaging

1 reference

https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiac characterization of 16 patients with large NF1 gene deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intelligence in individuals with a neurofibromatosis type 1 microdeletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CT imaging in adults with neurofibromatosis-1: frequent asymptomatic plexiform lesions

1 reference

https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15

1 reference

https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/26178382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.22832

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

0 references

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=Q37308862&oldid=2089474595"