Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis
LELM Vissers, BBA de Vries, JA Veltman - Journal of medical genetics, 2010 - jmg.bmj.com
Structural chromosomal rearrangements can lead to a wide variety of serious clinical
manifestations, including mental retardation (MR) and congenital malformations. Over the …
manifestations, including mental retardation (MR) and congenital malformations. Over the …
Guidelines for molecular karyoty** in constitutional genetic diagnosis
JR Vermeesch, H Fiegler, N De Leeuw… - European Journal of …, 2007 - nature.com
Array-based whole genome investigation or molecular karyoty** enables the genome-
wide detection of submicroscopic imbalances. Proof-of-principle experiments have …
wide detection of submicroscopic imbalances. Proof-of-principle experiments have …
Genomic microarrays in mental retardation: a practical workflow for diagnostic applications
DA Koolen, R Pfundt, N de Leeuw… - Human …, 2009 - Wiley Online Library
Microarray‐based copy number analysis has found its way into routine clinical practice,
predominantly for the diagnosis of patients with unexplained mental retardation. However …
predominantly for the diagnosis of patients with unexplained mental retardation. However …
A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism
J Zhu, REY Choa, MH Guo, L Plummer… - The Journal of …, 2015 - academic.oup.com
Context: Delayed puberty (DP) is a common issue and, in the absence of an underlying
condition, is typically self limited. Alhough DP seems to be heritable, no specific genetic …
condition, is typically self limited. Alhough DP seems to be heritable, no specific genetic …
Genetic determinants of pubertal timing in the general population
ZKZ Gajdos, KD Henderson, JN Hirschhorn… - Molecular and cellular …, 2010 - Elsevier
Puberty is an important developmental stage during which reproductive capacity is attained.
The timing of puberty varies greatly among healthy individuals in the general population and …
The timing of puberty varies greatly among healthy individuals in the general population and …
Challenges for CNV interpretation in clinical molecular karyoty**: lessons learned from a 1001 sample experience
K Buysse, B Delle Chiaie, R Van Coster… - European journal of …, 2009 - Elsevier
Molecular karyoty** has moved from bench to bedside for the genetic screening of
patients with mental retardation and/or congenital anomalies. The commercial availability of …
patients with mental retardation and/or congenital anomalies. The commercial availability of …
Insights into morphology and disease from the dog genome project
JJ Schoenebeck, EA Ostrander - Annual review of cell and …, 2014 - annualreviews.org
Although most modern dog breeds are less than 200 years old, the symbiosis between man
and dog is ancient. Since prehistoric times, repeated selection events have transformed the …
and dog is ancient. Since prehistoric times, repeated selection events have transformed the …
[HTML][HTML] Regulation of postnatal bone homeostasis by TGFβ
SY Tang, T Alliston - BoneKEy reports, 2013 - ncbi.nlm.nih.gov
Perhaps more so than any other tissue, bone has pivotal mechanical and biological
functions. Underlying the ability of bone to execute these functions, whether providing …
functions. Underlying the ability of bone to execute these functions, whether providing …
Molecular cytogenetics and cytogenomics of brain diseases
IY Iourov, SG Vorsanova, YB Yurov - Current genomics, 2008 - ingentaconnect.com
Molecular cytogenetics is a promising field of biomedical research that has recently
revolutionized our thinking on genome structure and behavior. This is in part due to …
revolutionized our thinking on genome structure and behavior. This is in part due to …
What controls the timing of puberty? An update on progress from genetic investigation
ZKZ Gajdos, JN Hirschhorn… - Current Opinion in …, 2009 - journals.lww.com
This review provides an update of the genes implicated in disorders of puberty, discusses
genes and pathways that may be involved in the timing of normal puberty, and suggests …
genes and pathways that may be involved in the timing of normal puberty, and suggests …