4.2 Article

A Translocation Between Xq21.33 and 22q13.33 Causes an Intragenic SHANK3 Deletion in a Woman With Phelan-McDermid Syndrome and Hypergonadotropic Hypogonadism

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Novel De Novo SHANK3 Mutation in Autistic Patients

Julie Gauthier et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2009)

Review Clinical Neurology

Genetics of autism spectrum disorders

Ravinesh A. Kumar et al.

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2009)

Article Genetics & Heredity

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3

A. Delahaye et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)

Review Immunology

Primary ovarian insufficiency: X chromosome defects and autoimmunity

Luca Persani et al.

JOURNAL OF AUTOIMMUNITY (2009)

Review Genetics & Heredity

OPINION The consequences of asynapsis for mammalian meiosis

Paul S. Burgoyne et al.

NATURE REVIEWS GENETICS (2009)

Review Endocrinology & Metabolism

Primary ovarian insufficiency: a more accurate term for premature ovarian failure

Corrine K. Welt

CLINICAL ENDOCRINOLOGY (2008)

Article Biochemistry & Molecular Biology

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

Heather L. Wilson et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2008)

Article Genetics & Heredity

Contribution of SHANK3 mutations to autism spectrum disorder

Rainald Moessner et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Obstetrics & Gynecology

X chromosome and ovarian failure

Daniela Toniolo et al.

SEMINARS IN REPRODUCTIVE MEDICINE (2007)

Review Obstetrics & Gynecology

Premature ovarian failure: a review

T. A. Nippita et al.

CLIMACTERIC (2007)

Article Genetics & Heredity

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

M. C. Bonaglia et al.

JOURNAL OF MEDICAL GENETICS (2006)

Article Obstetrics & Gynecology

Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients

M. F. Portnoi et al.

HUMAN REPRODUCTION (2006)

Review Genetics & Heredity

Premature ovarian failure

Paolo Beck-Peccoz et al.

ORPHANET JOURNAL OF RARE DISEASES (2006)

Review Obstetrics & Gynecology

An update: spontaneous premature ovarian failure is not an early menopause

LM Nelson et al.

FERTILITY AND STERILITY (2005)

Article Multidisciplinary Sciences

Distinct DNA-damage-dependent and -independent responses drive the loss of oocytes in recombination-defective mouse mutants

M Di Giacomo et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Genetics & Heredity

Genes and translocations involved in POF

D Schlessinger et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2002)

Article Genetics & Heredity

FISH-mapping of a 100-kb terminal 22q13 deletion

BM Anderlid et al.

HUMAN GENETICS (2002)

Article Genetics & Heredity

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

MC Bonaglia et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2001)