(Q51929364)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

Schimke immunoosseous dysplasia: suggestions of genetic diversity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Yumi Asakura

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Caterina Cancrini

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Valérie Cormier-Daire

21

1 reference

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21 December 2019

Georges Deschenes

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Encarna Guillén Navarro

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Nihal Özdemir

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

22

Karlien Cransberg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

author name string

J Marietta Clewing

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Helen Fryssira

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

David Goodman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Sarah F Smithson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Emily A Sloan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Shu Lou

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Yan Huang

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Kunho Choi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Thomas Lücke

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Harika Alpay

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Jean-Luc André

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Nathalie Biebuyck-Gouge

13

1 reference

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21 December 2019

Radovan Bogdanovic

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Dominique Bonneau

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Pierre Cochat

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Sandra Cockfield

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Laure Collard

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Isabel Cordeiro

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Karel Cutka

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Jochen H H Ehrich

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Stefan Fründ

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Helen Georgaki

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Barbara Hinkelmann

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Maria Kanariou

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Belde Kasap

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Sara Sebnem Kilic

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Guiliana Lama

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Petra Lamfers

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Chantal Loirat

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Silvia Majore

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

David Milford

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Denis Morin

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Bertram F Pontz

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Willem Proesmans

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Stavroula Psoni

42

1 reference

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21 December 2019

Herbert Reichenbach

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Silke Reif

44

1 reference

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21 December 2019

Cristina Rusu

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Jorge M Saraiva

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Onur Sakallioglu

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Beate Schmidt

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Lawrence Shoemaker

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Sabine Sigaudy

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Graham Smith

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Flora Sotsiou

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Natasa Stajic

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Anja Stein

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Asbjørg Stray-Pedersen

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Doris Taha

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Sophie Taque

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Jane Tizard

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Newton A C S Wong

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Cornelius F Boerkoel

61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

publication date

1 March 2007

1 reference

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21 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

page(s)

273-283

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

Schimke immuno-osseous dysplasia: a cell autonomous disorder?

21 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

Association of migraine-like headaches with Schimke immuno-osseous dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

Beyond Mendel: an evolving view of human genetic disease transmission

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

ATP-dependent chromatin remodeling activities.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Longevity in Schimke immuno-osseous dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Generalized atherosclerosis sparing the transplanted kidney in Schimke disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Schimke versus non-Schimke chronic kidney disease: an anthropometric approach.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

A eukaryotic SWI2/SNF2 domain, an exquisite detector of double-stranded to single-stranded DNA transition elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

SWI2/SNF2 and related proteins: ATP-driven motors that disrupt protein-DNA interactions?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Monogenic traits are not simple: lessons from phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20432

7 January 2021

Identifiers

DOI

10.1002/HUMU.20432

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089404%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference