A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism

Genetics of autism spectrum disorders

(2009) Ravinesh A. Kumar et al.   Current Neurology and Neuroscience Reports

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

(2009) A. Delahaye et al.   European Journal of Medical Genetics

Primary ovarian insufficiency: X chromosome defects and autoimmunity

(2009) Luca Persani et al.   JOURNAL OF AUTOIMMUNITY

The consequences of asynapsis for mammalian meiosis

(2009) Paul S. Burgoyne et al.   NATURE REVIEWS GENETICS

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

(2009) Catalina Betancur et al.   TRENDS IN NEUROSCIENCES

Novel de novo SHANK3 mutation in autistic patients

(2008) Julie Gauthier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

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

(2008) Heather L Wilson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2007) Corrine K. Welt   CLINICAL ENDOCRINOLOGY