A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency

Chromosomal instability in women with primary ovarian insufficiency

(2018) Sunita Katari et al.   HUMAN REPRODUCTION

A TAD boundary is preserved upon deletion of the CTCF-rich Firre locus

(2018) A. Rasim Barutcu et al.   Nature Communications

Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region

(2017) Pankaj Dangle et al.   JOURNAL OF MEDICAL GENETICS

Landscape of X chromosome inactivation across human tissues

(2017) Taru Tukiainen et al.   NATURE

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

(2016) Olivier Patat et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible

(2016) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

The importance of having two X chromosomes

(2016) Arthur P. Arnold et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy

(2015) S.A. Yatsenko et al.   CLINICAL GENETICS

A TAD Closer to Understanding Dosage Compensation

(2015) Andrew J. Wood et al.   DEVELOPMENTAL CELL

Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology

(2015) Julio Martin et al.   FERTILITY AND STERILITY

Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations

(2015) Mariana Moysés-Oliveira et al.   FERTILITY AND STERILITY

Genetics of primary ovarian insufficiency: new developments and opportunities

(2015) Yingying Qin et al.   HUMAN REPRODUCTION UPDATE

Condensin-driven remodelling of X chromosome topology during dosage compensation

(2015) Emily Crane et al.   NATURE

X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men

(2015) Alexander N. Yatsenko et al.   NEW ENGLAND JOURNAL OF MEDICINE

The lncRNA Firre anchors the inactive X chromosome to the nucleolus by binding CTCF and maintains H3K27me3 methylation

(2015) Fan Yang et al.   GENOME BIOLOGY

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability

(2014) Michelle A. Wood-Trageser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

(2014) Saleh AlAsiri et al.   JOURNAL OF CLINICAL INVESTIGATION

X chromosome regulation: diverse patterns in development, tissues and disease

(2014) Xinxian Deng et al.   NATURE REVIEWS GENETICS

Genomic Markers of Ovarian Reserve

(2013) Michelle Wood et al.   SEMINARS IN REPRODUCTIVE MEDICINE

Molecular Mechanisms of Gonadotropin-Releasing Hormone Signaling: Integrating Cyclic Nucleotides into the Network

(2013) Rebecca M. Perrett et al.   Frontiers in Endocrinology

The fibroblast growth factor family: involvement in the regulation of folliculogenesis

(2012) Roberta Nogueira Chaves et al.   REPRODUCTION FERTILITY AND DEVELOPMENT

Complex chromosomal rearrangements: origin and meiotic behavior

(2011) F. Pellestor et al.   HUMAN REPRODUCTION UPDATE

Consequences of RAS and MAPK activation in the ovary: The good, the bad and the ugly

(2011) Heng-Yu Fan et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Function of the Sex Chromosomes in Mammalian Fertility

(2011) E. Heard et al.   Cold Spring Harbor Perspectives in Biology

Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients

(2009) B Lakhal et al.   CLINICAL GENETICS

Primary ovarian insufficiency: X chromosome defects and autoimmunity

(2009) Luca Persani et al.   JOURNAL OF AUTOIMMUNITY

Primary Ovarian Insufficiency

(2009) Lawrence M. Nelson   NEW ENGLAND JOURNAL OF MEDICINE