Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. (Q45301359)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

0 references

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Stanislas Lyonnet

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Pierre Vabres

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Gwenaëlle Collod-Béroud

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Annick Toutain

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Thomas Edouard

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Valérie Cormier-Daire

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Didier Lacombe

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Catherine Boileau

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

author name string

P Callier

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

B Aral

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

N Hanna

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

S Lambert

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

H Dindy

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

C Ragon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

M Payet

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

V Carmignac

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

M A Delrue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

C Goizet

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

N Philip

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

T Busa

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Y Dulac

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

I Missotte

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Y Sznajer

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

C Francannet

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

A Megarbane

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

S Julia

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

P Sarda

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

B Gilbert

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

A Jacquette

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

D Heron

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

P Collignon

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

F Morice-Picard

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

P S Jouk

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

V Cusin

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

M Willems

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

E Sarrazin

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

K Amarof

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

C Coubes

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

M C Addor

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

H Journel

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

E Colin

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

P Khau Van Kien

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

C Baumann

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

B Leheup

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

D Martin-Coignard

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

M Doco-Fenzy

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

A Goldenberg

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

G Plessis

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

J Thevenon

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

L Pasquier

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

S Odent

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

F Huet

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

N Marle

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

A L Mosca-Boidron

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

F Mugneret

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

S Gauthier

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

C Binquet

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

C Thauvin-Robinet

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

G Jondeau

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

L Faivre

61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

publication date

18 March 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

volume

84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

page(s)

507-521

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23506379%20AND%20SRC:MED&resulttype=core&format=json

The new Ghent criteria for Marfan syndrome: what do they change?

26 February 2020

cites work

1 reference

The revised Ghent nosology for the Marfan syndrome

21 January 2018

1 reference

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

21 January 2018

1 reference

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

21 January 2018

1 reference

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

21 January 2018

1 reference

X-linked mental retardation with marfanoid habitus

21 January 2018

1 reference

A form of X-linked mental retardation with marfanoid habitus

21 January 2018

1 reference

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)

21 January 2018

1 reference

A girl with the Lujan-Fryns syndrome

21 January 2018

1 reference

Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.

21 January 2018

1 reference

Aortic root dilation in apparent Lujan-Fryns syndrome.

21 January 2018

1 reference

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

21 January 2018

1 reference

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

21 January 2018

1 reference

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

21 January 2018

1 reference

The mediator of RNA polymerase II.

21 January 2018

1 reference

The zebrafish kohtalo/trap230 gene is required for the development of the brain, neural crest, and pronephric kidney

21 January 2018

1 reference

DHHC9 and GCP16 constitute a human protein fatty acyltransferase with specificity for H- and N-Ras

21 January 2018

1 reference

Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species

21 January 2018

1 reference

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

21 January 2018

1 reference

Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

21 January 2018

1 reference

Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.

21 January 2018

1 reference

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

21 January 2018

1 reference

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

21 January 2018

1 reference

Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome.

21 January 2018

1 reference

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

21 January 2018

1 reference

Delineation of 15q13.3 microdeletions.

21 January 2018

1 reference

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

21 January 2018

1 reference

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

21 January 2018

1 reference

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy

21 January 2018

1 reference

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome

21 January 2018

1 reference

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

Diagnostic genome profiling in mental retardation

21 January 2018

1 reference

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

21 January 2018

1 reference

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

21 January 2018

1 reference

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

21 January 2018

1 reference

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

21 January 2018

1 reference

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

21 January 2018

1 reference

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 January 2018

1 reference

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

21 January 2018

1 reference

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

21 January 2018

1 reference

De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia.

21 January 2018

1 reference

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

21 January 2018

1 reference

Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome.

21 January 2018

1 reference

Mosaicism for duplication 12q (12q13-->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant

21 January 2018

1 reference

19p13.3 aberrations are associated with dysmorphic features and deviant psychomotor development

21 January 2018

1 reference

Molecular pathology of Shprintzen-Goldberg syndrome

21 January 2018

1 reference

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

21 January 2018

1 reference

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

21 January 2018

1 reference

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

21 January 2018

1 reference

The FBN1 (R2726W) mutation is not fully penetrant

21 January 2018

1 reference