(Q35682160)

English

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

scientific article published on 17 December 2011

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180640%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180640%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

microdeletion syndrome

1 reference

based on heuristic

inferred from title

4

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18 January 2020

Massimo Carella

5

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Europe PubMed Central

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18 January 2020

Laurence Colleaux

6

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Europe PubMed Central

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18 January 2020

Valérie Cormier-Daire

7

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18 January 2020

Ana Cristina Krepischi

16

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18 January 2020

22

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18 January 2020

27

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18 January 2020

Carla Rosenberg

29

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18 January 2020

author name string

Anna-Maja Molin

1

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18 January 2020

J Andrieux

2

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Europe PubMed Central

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18 January 2020

D A Koolen

3

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Europe PubMed Central

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18 January 2020

A David

8

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18 January 2020

N de Leeuw

9

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18 January 2020

B Delobel

10

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18 January 2020

B Duban-Bedu

11

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18 January 2020

R Fischetto

12

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Europe PubMed Central

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18 January 2020

F Flinter

13

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Europe PubMed Central

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18 January 2020

S Kjaergaard

14

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Europe PubMed Central

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18 January 2020

F Kok

15

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Europe PubMed Central

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18 January 2020

C Le Caignec

17

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180640%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

C Mackie Ogilvie

18

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Europe PubMed Central

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18 January 2020

S Maia

19

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Europe PubMed Central

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18 January 2020

M Mathieu-Dramard

20

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Europe PubMed Central

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18 January 2020

A Munnich

21

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Europe PubMed Central

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18 January 2020

F Papadia

23

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180640%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

R Pfundt

24

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180640%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

W Reardon

25

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Europe PubMed Central

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18 January 2020

A Receveur

26

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18 January 2020

L Ronsbro Darling

28

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18 January 2020

J Sá

30

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18 January 2020

L Vallee

31

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18 January 2020

C Vincent-Delorme

32

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18 January 2020

L Zelante

33

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18 January 2020

M-L Bondeson

34

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18 January 2020

G Annerén

35

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18 January 2020

language of work or name

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publication date

17 December 2011

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18 January 2020

number of pages

6

1 reference

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inferred from page(s)

Journal of Medical Genetics

1 reference

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18 January 2020

49

1 reference

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18 January 2020

2

1 reference

Europe PubMed Central

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18 January 2020

104-109

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180640%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

1 reference

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12 July 2018

Genetics of obesity and overgrowth syndromes

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12 July 2018

German head circumference references for infants, children and adolescents in comparison with currently used national and international references

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12 July 2018

Characterising and predicting haploinsufficiency in the human genome.

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12 July 2018

Resistance to change and vulnerability to stress: autistic-like features of GAP43-deficient mice.

1 reference

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12 July 2018

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

1 reference

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12 July 2018

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

1 reference

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12 July 2018

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

1 reference

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12 July 2018

Zinc finger protein Zbtb20 is essential for postnatal survival and glucose homeostasis

1 reference

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12 July 2018

Dopaminergic mechanism of reward-related incentive learning: focus on the dopamine D(3) receptor

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12 July 2018

Molecular mechanisms, biological actions, and neuropharmacology of the growth-associated protein GAP-43.

1 reference

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Genetic deletion of Lsamp causes exaggerated behavioral activation in novel environments

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12 July 2018

From dopaminergic genes to psychiatric disorders

1 reference

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12 July 2018

Hippocampus-like corticoneurogenesis induced by two isoforms of the BTB-zinc finger gene Zbtb20 in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261728

12 July 2018

Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum

1 reference

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12 July 2018

Characterization of two novel nuclear BTB/POZ domain zinc finger isoforms. Association with differentiation of hippocampal neurons, cerebellar granule cells, and macroglia

1 reference

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12 July 2018

Deletion of chromosome 3q proximal region gives rise to a variable phenotype

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12 July 2018

Dopamine receptors: from structure to function

2 references

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12 July 2018

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25 September 2018

A targeted mutation of the D3 dopamine receptor gene is associated with hyperactivity in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261728

12 July 2018

A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261728

12 July 2018

A case of de novo interstitial deletion 3q

1 reference

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12 July 2018

Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome

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12 July 2018

Identification of genomic loci contributing to agenesis of the corpus callosum

1 reference

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25 September 2018

Zbtb20-induced CA1 pyramidal neuron development and area enlargement in the cerebral midline cortex of mice

1 reference

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25 September 2018

A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay.

1 reference

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1 reference

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25 September 2018

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

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WHO Child Growth Standards based on length/height, weight and age.

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Deletion of the proximal long arm of chromosome 3 in an infant with features of Turner syndrome

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Delineation of the proximal 3q microdeletion syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22180640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

OEIS complex with del(3)(q12.2q13.2)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22180640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22180640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMEDGENET-2011-100534

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180640%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180640%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22180640%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

ResearchGate publication ID

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