(Q24647145)

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19029900%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities (English)

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19029900%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

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Nicola Brunetti-Pierri

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17 January 2020

Jonathan S Berg

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17 January 2020

John W. Belmont

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17 January 2020

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17 January 2020

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17 January 2020

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17 January 2020

James R. Lupski

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17 January 2020

Pawel Stankiewicz

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Pawel Stankiewicz

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17 January 2020

Dorothy K Grange

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Dorothy K Grange

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17 January 2020

Carlos A Bacino

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Carlos A Bacino

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17 January 2020

Beata Nowakowska

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17 January 2020

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Seema R Lalani

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17 January 2020

Fernando Scaglia

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Fernando Scaglia

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17 January 2020

Sung-Hae L Kang

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Sung-Hae L Kang

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17 January 2020

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Amber Pursley

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17 January 2020

Elizabeth R Roeder

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Elizabeth R Roeder

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17 January 2020

Tyler E Reimschisel

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17 January 2020

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Stephen Amato

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17 January 2020

Patricia I Bader

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Patricia I Bader

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17 January 2020

39

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Sau Wai Cheung

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17 January 2020

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Ewa Obersztyn

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17 January 2020

40

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Ankita Patel

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17 January 2020

Theresa A Grebe

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Theresa A Grebe

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17 January 2020

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Trilochan Sahoo

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17 January 2020

Brendan Lee

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17 January 2020

Timothy Lotze

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17 January 2020

Gail Kennedy

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17 January 2020

Susan Lansky-Shafer

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17 January 2020

Christine Weaver

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17 January 2020

Georgianne L Arnold

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17 January 2020

Terry Hutchison

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17 January 2020

Michael T Geragthy

24

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17 January 2020

Jeffrey W Innis

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17 January 2020

Sally S Rosengren

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17 January 2020

Sayed Naqvi

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17 January 2020

Adolfo D Garnica

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17 January 2020

Saunder M Bernes

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17 January 2020

Chin-To Fong

34

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17 January 2020

W David Walters

36

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17 January 2020

Anne Summers

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17 January 2020

language of work or name

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publication date

1 December 2008

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17 January 2020

Nature Genetics

1 reference

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17 January 2020

40

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17 January 2020

1466-1471

1 reference

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17 January 2020

12

1 reference

Europe PubMed Central

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17 January 2020

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

7 April 2017

Large recurrent microdeletions associated with schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

7 April 2017

Rare chromosomal deletions and duplications increase risk of schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

7 April 2017

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

7 April 2017

Global variation in copy number in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

7 April 2017

Mutations in Hydin impair ciliary motility in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

7 April 2017

ASPM is a major determinant of cerebral cortical size

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

7 April 2017

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

27 September 2017

A 360-kb interchromosomal duplication of the human HYDIN locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

27 September 2017

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

27 September 2017

Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

27 September 2017

Meta-analysis of brain and cranial size in schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

27 September 2017

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

27 September 2017

A novel domain suggests a ciliary function for ASPM, a brain size determining gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

30 May 2018

Protein-truncating mutations in ASPM cause variable reduction in brain size

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

30 May 2018

Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

30 May 2018

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

28 November 2018

Craniofacial dysmorphology in Swedish schizophrenia patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

28 November 2018

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

28 November 2018

Head circumference in 'preschizophrenic' and control neonates.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680128

28 November 2018

Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsinogen B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16

1 reference

https://pubmed.ncbi.nlm.nih.gov/19029900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions within chromosome 22q11 in familial congenital heart disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19029900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ABase-a tool for the rapid assessment of anthropometric measurements on handheld computers

1 reference

https://pubmed.ncbi.nlm.nih.gov/19029900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19029900

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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17 January 2020

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19029900%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

2 references

Consolidated OpenCitations Corpus – April 2017

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17 January 2020

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