(Q35033863)

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American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

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scholarly article

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Europe PubMed Central

PubMed publication ID

5 August 2017

American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

medical genetics

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author name string

Lisa G Shaffer

1

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

American College of Medical Genetics Professional Practice and Guidelines Committee

2

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Europe PubMed Central

PubMed publication ID

5 August 2017

language of work or name

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publication date

1 November 2005

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Genetics in Medicine

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Europe PubMed Central

PubMed publication ID

5 August 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

650-654

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Fragile X syndrome: diagnostic and carrier testing

1 reference

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8 July 2018

A cytogeneticist's perspective on genomic microarrays

1 reference

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8 July 2018

Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies

1 reference

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8 July 2018

Classifying by colors: FISH-based genome analysis.

1 reference

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8 July 2018

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

1 reference

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8 July 2018

Genetics of mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

1 reference

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8 July 2018

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

1 reference

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8 July 2018

Subtle chromosomal rearrangements in children with unexplained mental retardation

1 reference

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8 July 2018

Multiplex-FISH for pre- and postnatal diagnostic applications

1 reference

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8 July 2018

Infantile autism and associated autosomal chromosome abnormalities: a register-based study and a literature survey

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8 July 2018

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

1 reference

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8 July 2018

The annual incidence of DiGeorge/velocardiofacial syndrome

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8 July 2018

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.

1 reference

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8 July 2018

Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances

1 reference

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8 July 2018

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

The genetics of mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

Multicolor Spectral Karyotyping of Human Chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

Karyotyping human chromosomes by combinatorial multi-fluor FISH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

A clinical and molecular study of mosaicism for trisomy 17.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

Paternal trisomy 21 mosaicism and Down's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome

1 reference

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8 July 2018

Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

Aetiology of mild mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

Pallister-Killian syndrome: cytogenetic and molecular studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

The recurrence risks for mild idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

Fluorescence in situ hybridization: applications in cytogenetics and gene mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

Analysis of genes and chromosomes by nonisotopic in situ hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110947

8 July 2018

Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

1 reference

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8 July 2018

High Resolution of Human Chromosomes

1 reference

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8 July 2018

Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry.

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000186545.83160.1E

21 January 2018

Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000186545.83160.1E

21 January 2018

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000186545.83160.1E

21 January 2018

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000186545.83160.1E

21 January 2018

The promise and pitfalls of telomere region-specific probes

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000186545.83160.1E

21 January 2018

Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987.

1 reference

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25 October 2018

Caution: telomere crossing

1 reference

https://pubmed.ncbi.nlm.nih.gov/16301868

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical applications of comparative genomic hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/16301868

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The end of the beginning of chromosome ends

1 reference

https://pubmed.ncbi.nlm.nih.gov/16301868

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mid-prophase human chromosomes. The attainment of 2000 bands

1 reference

https://pubmed.ncbi.nlm.nih.gov/16301868

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration

1 reference

https://pubmed.ncbi.nlm.nih.gov/16301868

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Minimal sizes of deletions detected by comparative genomic hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/16301868

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals

1 reference

https://pubmed.ncbi.nlm.nih.gov/16301868

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1097/01.GIM.0000186545.83160.1E

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

ResearchGate publication ID

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