Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25 (Q24622683)

object named as

Ralph S Lachman

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Karen Gripp

object named as

Karen W Gripp

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author name string

Deepika D'Cunha Burkardt

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Jill A Rosenfeld

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Maria L Helgeson

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Brad Angle

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Valerie Banks

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Wendy E Smith

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Jessica Moline

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Rocio T Moran

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Dmitriy M Niyazov

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Cathy A Stevens

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Robert Roger Lebel

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Douglas G Ashley

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Nancy Kramer

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John M Graham

American Journal of Medical Genetics Part A

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language of work or name

English

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publication date

June 2011

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published in

1 reference

Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease

volume

155A

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issue

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page(s)

1336-51

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cites work

1 reference

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Novel CENPJ mutation causes Seckel syndrome

7 April 2017

1 reference

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Dnm3os, a non-coding RNA, is required for normal growth and skeletal development in mice

7 April 2017

1 reference

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Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

7 April 2017

1 reference

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The CENP-H-I complex is required for the efficient incorporation of newly synthesized CENP-A into centromeres

7 April 2017

1 reference

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The human CENP-A centromeric nucleosome-associated complex

7 April 2017

1 reference

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A conserved noncoding intronic transcript at the mouse Dnm3 locus

7 April 2017

1 reference

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Postsynaptic positioning of endocytic zones and AMPA receptor cycling by physical coupling of dynamin-3 to Homer

7 April 2017

1 reference

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Regulation of dendritic spine morphology and synaptic function by Shank and Homer

7 April 2017

1 reference

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Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

10 May 2017

1 reference

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Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109510

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109510

Myelin proteomics: molecular anatomy of an insulating sheath

27 September 2017

1 reference

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Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

27 September 2017

1 reference

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Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

27 September 2017

1 reference

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A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109510

Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109510

Interstitial deletion of the long arm of chromosome 1, del(1)(q21 leads to q25) in a profoundly retarded 8-year-old girl with multiple anomalies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109510

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109510

Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109510

A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21-23 leads to 1q25.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109510

Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109510

Cytogenetic studies in a selected group of mentally retarded children.

30 May 2018

1 reference

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Molecular characterization of a patient with del(1)(q23-q25).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109510

Partial Deletion of 1q, Following a Pericentric Inversion, in a Boy with Multiple Minor Morphologic Anomalies and Mental Retardation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109510

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.34049

Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.34049

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.34049

Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale

21 January 2018

1 reference

12 December 2020

[Del(1)(q22-q25) syndrome. Cytogenetics and phenotype]

1 reference

12 December 2020

Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21----q25) and del(1)(q41----q43)

1 reference

12 December 2020

Interstitial deletion 46,XY, del(1)(q23q25)

1 reference

12 December 2020

Proximal deletion of the long arm of chromosome 1: [del(1)(q23-q25)]

1 reference

12 December 2020

Chromosome 1q deletion and congenital glaucoma

1 reference

12 December 2020

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation

1 reference

12 December 2020

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

1 reference

12 December 2020

Interstitial deletion of chromosome 1 (q23-q25). Report of a case

1 reference

12 December 2020