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Book Chapter

Human Y Chromosome and Male Infertility: Forward and Back from Azoospermia Factor Chromatin Structure to Azoospermia Factor Gene Function

Series: Monographs in Human Genetics
Volume: 21
Published: 11 September 2017
10.1159/000477278
EISBN: 978-3-318-06098-0
... Abstract In the euchromatic part of the long arm of the human Y chromosome (Yq11) at least 13 Y genes encoding proteins and expressed in male germ cells were found in 3 distinct genomic Y regions frequently deleted in infertile men with idiopathic azoospermia, i.e., for unknown reasons...
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Book Chapter

Chromosome 22q13 Rearrangements Causing Global Developmental Delay and Autistic Spectrum Disorder

Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
10.1159/000287603
EISBN: 978-3-8055-9281-9
... and it has been reported in mosaic and non-mosaic forms; it may occur de novo or be inherited and be associated with ring chromosome 22 and in rare cases with proximal inverted duplications. Rare terminal duplications of 22q13 have also been found. Haploinsufficiency of the SHANK3/ProSAP2 gene, less than...
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Book
Book cover for <span class="search-highlight">Chromosome</span> Structure and Function

Chromosome Structure and Function

Published: 08 July 2009
10.1159/isbn.978-3-8055-9213-0
EISBN: 978-3-8055-9213-0
Book Chapter

Evolution of Gene Function on the X Chromosome Versus the Autosomes

Series: Genome Dynamics
Volume: 3
Published: 13 September 2007
10.1159/000107606
EISBN: 978-3-8055-8341-1
... Abstract Sex chromosomes have arisen from autosomes many times over the course of evolution.This process generates chromosomal heteromorphy between the sexes, which has importantimplications for the evolution of coding and noncoding sequences on the sex chromosomesversus the autosomes...
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Book Chapter

Protein Kinases That Regulate Chromosome Stability and Their Downstream Targets

Series: Genome Dynamics
Volume: 1
Published: 27 March 2006
10.1159/000092505
EISBN: 978-3-318-01290-3
.... Since the genome is under constant threat from DNA damage due to radiation, chemicalsand replication errors, checkpoint dysregulation can cause catastrophic DNA damage,resulting in chromosome instability, aneuploidy, and even tumorigenesis. Two parallel pathwaysthat respond to DNA-damage stress have...
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Book
Book cover for <span class="search-highlight">Chromosome</span> Aberrations

Chromosome Aberrations

Published: 10 June 2004
10.1159/isbn.978-3-318-01100-5
EISBN: 978-3-318-01100-5
Book Chapter

Aberrant Splicing of Tau Transcripts in Frontotemporal Dementia with Parkinsonism Linked to Chromosome 17

Published: 26 April 2004
10.1159/000078540
EISBN: 978-3-318-00993-4
Open the PDF for Aberrant Splicing of Tau Transcripts in Frontotemporal Dementia with Parkinsonism Linked to <span class="search-highlight">Chromosome</span> 17 in another window
Book Chapter

Cytogenetic and Molecular Genetic Evolution of Philadelphia-Chromosome-Positive Chronic Myeloid Leukaemia

Published: 29 November 2002
10.1159/000068097
EISBN: 978-3-318-00772-5
Open the PDF for Cytogenetic and Molecular Genetic Evolution of Philadelphia-<span class="search-highlight">Chromosome</span>-Positive Chronic Myeloid Leukaemia in another window
Book Chapter

Myeloproliferative Disorders with Translocations of Chromosome 5q31-35: Role of the Platelet-Derived Growth Factor Receptor Beta

Published: 29 November 2002
10.1159/000068099
EISBN: 978-3-318-00772-5
Open the PDF for Myeloproliferative Disorders with Translocations of <span class="search-highlight">Chromosome</span> 5q31-35: Role of the Platelet-Derived Growth Factor Receptor Beta in another window
Book Chapter

Refined Genetic Mapping of the Autosomal Recessive Non-Syndromic Deafness Locus DFNB8 on Human Chromosome 21q22.3

Series: Advances in Oto-Rhino-Laryngology
Volume: 56
Published: 25 April 2000
10.1159/000059096
EISBN: 978-3-318-00495-3
Open the PDF for Refined Genetic Mapping of the Autosomal Recessive Non-Syndromic Deafness Locus DFNB8 on Human <span class="search-highlight">Chromosome</span> 21q22.3 in another window
Book Chapter

DFNB15: Autosomal Recessive Non-Syndromic Hearing Loss Gene - Chromosome 3q, 19p or Digenic Recessive Inheritance?

Series: Advances in Oto-Rhino-Laryngology
Volume: 56
Published: 25 April 2000
10.1159/000059089
EISBN: 978-3-318-00495-3
Open the PDF for DFNB15: Autosomal Recessive Non-Syndromic Hearing Loss Gene - <span class="search-highlight">Chromosome</span> 3q, 19p or Digenic Recessive Inheritance? in another window
Book Chapter

Indication for a Possible Third Breast Cancer Predisposing Gene, BRCA3, in the Chromosome 8p12–p22 Region

Published: 02 October 1996
10.1159/000425552
EISBN: 978-3-318-04757-8
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Book Chapter

Role of Chromosome 11 in Hereditary and Sporadic Pituitary Tumourigenesis

Series: Frontiers of Hormone Research
Volume: 20
Published: 12 April 1996
10.1159/000425148
EISBN: 978-3-318-03666-4
Open the PDF for Role of <span class="search-highlight">Chromosome</span> 11 in Hereditary and Sporadic Pituitary Tumourigenesis in another window
Book Chapter

The Gene for Hereditary Progressive Dystonia with Marked Diurnal Fluctuation Maps to Chromosome 14q

Series: Frontiers of Neurology and Neuroscience
Volume: 14
Published: 28 February 1995
10.1159/000423597
EISBN: 978-3-318-03682-4
Open the PDF for The Gene for Hereditary Progressive Dystonia with Marked Diurnal Fluctuation Maps to <span class="search-highlight">Chromosome</span> 14q in another window
Book Chapter

Early-Onset, Generalized Dystonia Caused by DYT1 Gene on Chromosome 9q34

Series: Frontiers of Neurology and Neuroscience
Volume: 14
Published: 28 February 1995
10.1159/000423598
EISBN: 978-3-318-03682-4
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Book Chapter

Evolution of the Y-Chromosome in the Wild Mouse

Published: 15 November 1994
10.1159/000424146
EISBN: 978-3-318-05411-8
Open the PDF for Evolution of the Y-<span class="search-highlight">Chromosome</span> in the Wild Mouse in another window
Book Chapter

An X-Linked Gene Governing Sperm Morphology Revealed in Laboratory Mice Consomic for X Chromosome from Japanese House Mouse, Mus musculus molossinus

Published: 15 November 1994
10.1159/000424163
EISBN: 978-3-318-05411-8
Open the PDF for An X-Linked Gene Governing Sperm Morphology Revealed in Laboratory Mice Consomic for X <span class="search-highlight">Chromosome</span> from Japanese House Mouse, Mus musculus molossinus in another window
Book Chapter

X-Y Chromosome Pairing and Hybrid Sterility of Mice

Published: 15 November 1994
10.1159/000424164
EISBN: 978-3-318-05411-8
Open the PDF for X-Y <span class="search-highlight">Chromosome</span> Pairing and Hybrid Sterility of Mice in another window
Book Chapter

High Resolution Linkage Map of Mouse Chromosome 11 Consisting of Microsatellite Markers Based on Single Intersubspecific Backcross

Published: 15 November 1994
10.1159/000424167
EISBN: 978-3-318-05411-8
Open the PDF for High Resolution Linkage Map of Mouse <span class="search-highlight">Chromosome</span> 11 Consisting of Microsatellite Markers Based on Single Intersubspecific Backcross in another window
Book

Digitized Human Chromosome Ideograms

Published: 23 November 1993
10.1159/isbn.978-3-8055-7345-0