Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach. (Q42478088)

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15 February 2020

title

Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach (English)

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15 February 2020

4

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15 February 2020

Oscar Molina

1

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15 February 2020

Ester Anton

2

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15 February 2020

Francesca Vidal

3

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15 February 2020

author name string

Oscar Molina

1

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1 November 2017

Ester Anton

2

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1 November 2017

Francesca Vidal

3

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1 November 2017

8 October 2010

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15 February 2020

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15 February 2020

volume

129

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15 February 2020

issue

1

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15 February 2020

page(s)

35-44

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https://scigraph.springernature.com/pub.10.1007/s00439-010-0894-4

15 February 2020

exact match

0 references

cites work

Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man

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12 December 2020

Cytogenetic determinants of male fertility

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Mechanisms for human genomic rearrangements

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12 December 2020

22q11 microdeletion studies in the heart tissue of an abortus involving a familial form of congenital heart disease

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Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

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A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

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Frequency of human sperm carrying structural aberrations of chromosome 1 increases with advancing age.

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12 December 2020

The effects of age on the incidence of aneuploidy rates in spermatozoa of oligoasthenozoospermic patients and its relationship with ICSI outcome.

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12 December 2020

The early embryonic expression of TFII-I during mouse preimplantation development.

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12 December 2020

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

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12 December 2020

Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype

1 reference

12 December 2020

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

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12 December 2020

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.

1 reference

12 December 2020

Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

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12 December 2020

Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

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12 December 2020

Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males

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12 December 2020

Segmental duplications: an 'expanding' role in genomic instability and disease

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12 December 2020

Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes

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12 December 2020

The effects of age and abnormal sperm count on the nondisjunction of spermatozoa

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12 December 2020

Fluorescence in situ hybridization (FISH) protocol in human sperm

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12 December 2020

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

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12 December 2020

Role of sperm FISH studies in the genetic reproductive advice of structural reorganization carriers

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12 December 2020

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

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12 December 2020

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

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12 December 2020

Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages

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12 December 2020

Microduplication 22q11.2: a new chromosomal syndrome

1 reference

12 December 2020

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

1 reference

12 December 2020

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

1 reference

12 December 2020

Autism, language delay and mental retardation in a patient with 7q11 duplication.

1 reference

12 December 2020

Molecular mechanisms for genomic disorders

1 reference

12 December 2020

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

1 reference

12 December 2020

Processes of de novo duplication of human alpha-globin genes.

1 reference

12 December 2020

Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance

1 reference

12 December 2020

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

1 reference

12 December 2020

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome

1 reference

12 December 2020

Severe expressive-language delay related to duplication of the Williams-Beuren locus

1 reference

12 December 2020

Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development

1 reference

12 December 2020

Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers.

1 reference

12 December 2020

Genomic disorders on 22q11

1 reference

12 December 2020

10.1007/S00439-010-0894-4

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20931230%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

15 February 2020

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