(Q40453496)

English

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences.

scientific article published on March 2005

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scholarly article

1 reference

Europe PubMed Central

20 September 2017

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. (English)

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Europe PubMed Central

20 September 2017

7

object named as

Britta Belitz

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Europe PubMed Central

20 September 2017

author name string

John C K Barber

1

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Europe PubMed Central

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N Simon Thomas

2

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Europe PubMed Central

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Morag N Collinson

3

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Europe PubMed Central

20 September 2017

Nick R Dennis

4

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Europe PubMed Central

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Thomas Liehr

5

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Europe PubMed Central

20 September 2017

Anja Weise

6

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Europe PubMed Central

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Lutz Pfeiffer

8

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Europe PubMed Central

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Maria Kirchhoff

9

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Europe PubMed Central

20 September 2017

Bente Krag-Olsen

10

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Europe PubMed Central

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Claes Lundsteen

11

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20 September 2017

publication date

1 March 2005

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Europe PubMed Central

20 September 2017

European Journal of Human Genetics

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Europe PubMed Central

20 September 2017

13

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3

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283-291

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20 September 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201267

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Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.

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"Molecular rulers" for calibrating phenotypic effects of telomere imbalance

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Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

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Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5.

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Identification of the gene-richest bands in human prometaphase chromosomes.

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Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation

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Infertility in human males with autosomal translocations. II. Meiotic studies in three reciprocal rearrangements, one showing tertiary monosomy in a 45-chromosome individual and his father

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Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations

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Duplication 14(q24.3q31) in a father and daughter: delineation of a possible imprinted region

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The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

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5p14 deletion associated with microcephaly and seizures

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A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities

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Del(3) (p25.3) without phenotypic effect

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A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases

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Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype

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Interstitial deletions without phenotypic effect: prenatal diagnosis of a new family and brief review

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Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype

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Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay

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Familial dup(5)(q15q21) associated with normal and abnormal phenotypes

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Autism and maternally derived aberrations of chromosome 15q.

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Deletion of band 13q21 is compatible with normal phenotype

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Two more possible pitfalls of rapid prenatal diagnostics using interphase nuclei

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Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification

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An improved lymphocyte culture technique: deoxycytidine release of a thymidine block and use of a constant humidity chamber for slide making

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A quantitative polymerase chain reaction method for determining copy number within the Prader-Willi/Angelman syndrome critical region

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Identification of a haplosufficient 3.6-Mb region in human chromosome 11q14.3-->q21

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Duplication of 8p23.2: a benign cytogenetic variant?

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Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23

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Duplication of chromosome region 8p23.1 ? p23.3: A benign variant?

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Structural aberrations of the long arm of chromosome no. 22. Report fo a family with translocation t(11;22) (q25;q11).

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Identifiers

10.1038/SJ.EJHG.5201267

1 reference

Europe PubMed Central

20 September 2017

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1 reference

Europe PubMed Central

20 September 2017

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