(Q39244531)

10 September 2017

title

Genetic counseling, activism and 'genotype-first' diagnosis of developmental disorders (English)

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10 September 2017

Daniel Navon

1

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10 September 2017

language of work or name

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21 July 2012

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Journal of Genetic Counseling

10 September 2017

published in

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10 September 2017

volume

21

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10 September 2017

issue

6

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10 September 2017

page(s)

770-776

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Practical guidelines for managing patients with 22q11.2 deletion syndrome

10 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Genetics, mental retardation, and the forging of new alliances

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Aggressive behavior, mental sub-normality and the XYY male

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Cytogenetic Technology — Genotype and Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Genetic counseling for the 22q11.2 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Genomic designation: how genetics can delineate new, phenotypically diffuse medical categories

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

21 January 2018

22q13 deletion syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Advocacy groups as research organizations: the PXE International example

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Understanding variable expressivity in microdeletion syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

A place for genetic uncertainty: parents valuing an unknown in the meaning of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-012-9515-9

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

12 December 2020

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

1 reference

12 December 2020

Science for the people

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12 December 2020

What's in a name? The 22q11.2 deletion

1 reference

12 December 2020

Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome

1 reference

12 December 2020

Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases

1 reference

12 December 2020

The geneticization of health and illness: implications for social practice

1 reference

12 December 2020

2012 National Society of Genetic Counselors presidential address: maintaining our professional identity in an ever-expanding genetics universe

1 reference

12 December 2020

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

1 reference

12 December 2020

Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome

1 reference

12 December 2020

10.1007/S10897-012-9515-9

Identifiers

DOI

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10 September 2017

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