Genetics of human female infertility
SA Yatsenko, A Rajkovic - Biology of reproduction, 2019 - academic.oup.com
About 10% of women of reproductive age are unable to conceive or carry a pregnancy to
term. Female factors alone account for at least 35% of all infertility cases and comprise a …
term. Female factors alone account for at least 35% of all infertility cases and comprise a …
[PDF][PDF] Characterization of Potocki-Lupski syndrome (dup (17)(p11. 2p11. 2)) and delineation of a dosage-sensitive critical interval that can convey an autism …
L Potocki, W Bi, D Treadwell-Deering… - The American Journal of …, 2007 - cell.com
The duplication 17p11. 2 syndrome, associated with dup (17)(p11. 2p11. 2), is a recently
recognized syndrome of multiple congenital anomalies and mental retardation and is the …
recognized syndrome of multiple congenital anomalies and mental retardation and is the …
[HTML][HTML] X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men
AN Yatsenko, AP Georgiadis, A Röpke… - … England Journal of …, 2015 - Mass Medical Soc
Background The genetic basis of nonobstructive azoospermia is unknown in the majority of
infertile men. Methods We performed array comparative genomic hybridization testing in …
infertile men. Methods We performed array comparative genomic hybridization testing in …
[HTML][HTML] Development and validation of a CGH microarray for clinical cytogenetic diagnosis
Purpose: We developed a microarray for clinical diagnosis of chromosomal disorders using
large insert genomic DNA clones as targets for comparative genomic hybridization (CGH) …
large insert genomic DNA clones as targets for comparative genomic hybridization (CGH) …
Noninvasive prenatal diagnosis of a fetal microdeletion syndrome
Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome Page 1 correspondence n
engl j med 365;19 nejm.org november 10, 2011 1847 and provides for some flexibility in …
engl j med 365;19 nejm.org november 10, 2011 1847 and provides for some flexibility in …
[HTML][HTML] Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability
S AlAsiri, S Basit, MA Wood-Trageser… - The Journal of …, 2015 - Am Soc Clin Investig
Premature ovarian failure (POF) is a genetically and phenotypically heterogeneous disorder
that includes individuals with manifestations ranging from primary amenorrhea to loss of …
that includes individuals with manifestations ranging from primary amenorrhea to loss of …
[PDF][PDF] MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability
MA Wood-Trageser, F Gurbuz, SA Yatsenko… - The American Journal of …, 2014 - cell.com
Premature ovarian failure (POF) is genetically heterogeneous and manifests as
hypergonadotropic hypogonadism either as part of a syndrome or in isolation. We studied …
hypergonadotropic hypogonadism either as part of a syndrome or in isolation. We studied …
[HTML][HTML] Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases
X Lu, CA Shaw, A Patel, J Li, ML Cooper, WR Wells… - PloS one, 2007 - journals.plos.org
Background Array Comparative Genomic Hybridization (a-CGH) is a powerful molecular
cytogenetic tool to detect genomic imbalances and study disease mechanism and …
cytogenetic tool to detect genomic imbalances and study disease mechanism and …
[HTML][HTML] Hormad1 Mutation Disrupts Synaptonemal Complex Formation, Recombination, and Chromosome Segregation in Mammalian Meiosis
YH Shin, Y Choi, SU Erdin, SA Yatsenko, M Kloc… - PLoS …, 2010 - journals.plos.org
Meiosis is unique to germ cells and essential for reproduction. During the first meiotic
division, homologous chromosomes pair, recombine, and form chiasmata. The homologues …
division, homologous chromosomes pair, recombine, and form chiasmata. The homologues …
Genetic approach to ambiguous genitalia and disorders of sex development: what clinicians need to know
SA Yatsenko, SF Witchel - Seminars in perinatology, 2017 - Elsevier
Genetic tools such as microarray and next-generation sequencing have initiated a new era
for the diagnosis and management of patients with disorders of sex development (DSDs) …
for the diagnosis and management of patients with disorders of sex development (DSDs) …