List of works - Andrew R. Zinn

A Turner syndrome neurocognitive phenotype maps to Xp22.3.

scientific article

A fork in the road to fertility

scientific article published in February 2001

A man who inherited hisSRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father

article

A second recombination hotspot associated with SHOX deletions

scientific article published in March 2006

A serotonin and melanocortin circuit mediates D-fenfluramine anorexia

scientific journal article

An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome

scientific article

Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome

scientific article

Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features.

scientific article published on February 2015

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

scientific article published on 8 December 2010

Cognitive and motor development during childhood in boys with Klinefelter syndrome

scientific article published in March 2008

CompleteSHOX deficiency causes Langer mesomelic dysplasia

article

Compound heterozygosity ofSHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

scientific article published on 01 May 2007

Computing power of quantitative trait locus association mapping for haploid loci

scientific article published on 23 August 2009

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

article by Ashleigh A Richards et al published October 2008 in Pediatric Research

DELETION MAPPING OF CRITICAL REGION FOR HYPOSPADIAS, PENOSCROTAL TRANSPOSITION AND IMPERFORATE ANUS ON HUMAN CHROMOSOME 13.

scientific article published on August 2006

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis

scientific article

Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile

scientific article published in October 1997

Distribution and neurochemical characterization of protein kinase C-theta and -delta in the rodent hypothalamus ⬇️

scientific article published on 05 August 2010

Dynamic regulation of p53 subnuclear localization and senescence by MORC3

scientific article

EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome

scientific article

Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome

scientific article published on 3 August 2005

Editorial: MC4R mutations--weight before screening!

scientific article published in May 2006

Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome.

scientific article

Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia.

scientific article published on 22 October 2009

Erratum: Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

scholarly article published in European Journal of Human Genetics

Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

scientific article

Evolution of the skin manifestations of X-linked pigmentary reticulate disorder.

scientific article

Growing interest in Turner syndrome

scientific article published on 01 May 1997

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.

scientific article

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region

scientific article published on 8 September 2016

Identification of morc (microrchidia), a mutation that results in arrest of spermatogenesis at an early meiotic stage in the mouse

scientific journal article

Inactivation of the Rps4 gene on the mouse X chromosome

scientific article

Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects

scientific article

Inducible neuronal inactivation of Sim1 in adult mice causes hyperphagic obesity

scientific article

Kinetic and segregational analysis of mitochondrial DNA recombination in yeast

article

MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes.

scientific article published on 13 February 2009

Maternal X Chromosome, Visceral Adiposity, and Lipid Profile

scientific article published in The Journal of the American Medical Association

Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes.

scientific article

Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations

scientific article

Neurodevelopmental and psychosocial aspects of Turner syndrome

scientific article

New gene family defined by MORC, a nuclear protein required for mouse spermatogenesis

scientific journal article

Nonreciprocal exchange between alleles of the yeast mitochondrial 21S rRNA gene: kinetics and the involvement of a double-strand break

scientific article published on April 1985

Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice

scientific article

Phenotypes Associated with SHOX Deficiency

scientific article published on 01 December 2001

Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease

scientific article published on 01 November 2007

Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression

scientific article

Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST.

scientific article published in May 1997

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

scientific article

Reply to Benito-Sanz et al.

scientific article published in August 2006

Rps4 maps near the inactivation center on the mouse X chromosome

scientific article published in February 1992

SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake.

scientific article

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

scientific article published on 5 August 2013

Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea

scientific article published on 23 October 2007

Sex-chromosome dosage effects on gene expression in humans

scientific article published on 26 June 2018

Sim1 inhibits bone formation by enhancing the sympathetic tone in male mice.

scientific article

Submicroscopic Chromosomal Copy Number Variations Identified in Children With Hypoplastic Left Heart Syndrome

scientific article published on 21 February 2012

The Phenotype of Short Stature Homeobox Gene (SHOX) Deficiency in Childhood: Contrasting Children with Leri-Weill Dyschondrosteosis and Turner Syndrome

article

The Turner syndrome-associated neurocognitive phenotype maps to distal Xp

scientific article

The effect of genetic differences and ovarian failure: intact cognitive function in adult women with premature ovarian failure versus turner syndrome

scientific article published in April 2004

The physical phenotype of girls and women with Turner syndrome is not X-imprinted

scientific article published on 23 January 2007

Turner syndrome and haploinsufficiency

scientific article

Turner syndrome: the case of the missing sex chromosome

scientific article

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

scientific article

Unconventional Wisdom About the Obesity Epidemic Symbol ⬇️

scientific article published on December 1, 2010

List of works by Andrew R. Zinn

A Turner syndrome neurocognitive phenotype maps to Xp22.3.

A fork in the road to fertility

A man who inherited hisSRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father

A second recombination hotspot associated with SHOX deletions

A serotonin and melanocortin circuit mediates D-fenfluramine anorexia

An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome

Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome

Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features.

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

Cognitive and motor development during childhood in boys with Klinefelter syndrome

CompleteSHOX deficiency causes Langer mesomelic dysplasia

Compound heterozygosity ofSHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

Computing power of quantitative trait locus association mapping for haploid loci

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

DELETION MAPPING OF CRITICAL REGION FOR HYPOSPADIAS, PENOSCROTAL TRANSPOSITION AND IMPERFORATE ANUS ON HUMAN CHROMOSOME 13.

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis

Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile

Distribution and neurochemical characterization of protein kinase C-theta and -delta in the rodent hypothalamus ⬇️

Dynamic regulation of p53 subnuclear localization and senescence by MORC3

EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome

Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome

Editorial: MC4R mutations--weight before screening!

Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome.

Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia.

Erratum: Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

Evolution of the skin manifestations of X-linked pigmentary reticulate disorder.

Growing interest in Turner syndrome

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region

Identification of morc (microrchidia), a mutation that results in arrest of spermatogenesis at an early meiotic stage in the mouse

Inactivation of the Rps4 gene on the mouse X chromosome

Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects

Inducible neuronal inactivation of Sim1 in adult mice causes hyperphagic obesity

Kinetic and segregational analysis of mitochondrial DNA recombination in yeast

MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes.

Maternal X Chromosome, Visceral Adiposity, and Lipid Profile

Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes.

Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations

Neurodevelopmental and psychosocial aspects of Turner syndrome

New gene family defined by MORC, a nuclear protein required for mouse spermatogenesis

Nonreciprocal exchange between alleles of the yeast mitochondrial 21S rRNA gene: kinetics and the involvement of a double-strand break

Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice

Phenotypes Associated with SHOX Deficiency

Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease

Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression

Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST.

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

Reply to Benito-Sanz et al.

Rps4 maps near the inactivation center on the mouse X chromosome

SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake.

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea

Sex-chromosome dosage effects on gene expression in humans

Sim1 inhibits bone formation by enhancing the sympathetic tone in male mice.

Submicroscopic Chromosomal Copy Number Variations Identified in Children With Hypoplastic Left Heart Syndrome

The Phenotype of Short Stature Homeobox Gene (SHOX) Deficiency in Childhood: Contrasting Children with Leri-Weill Dyschondrosteosis and Turner Syndrome

The Turner syndrome-associated neurocognitive phenotype maps to distal Xp

The effect of genetic differences and ovarian failure: intact cognitive function in adult women with premature ovarian failure versus turner syndrome

The physical phenotype of girls and women with Turner syndrome is not X-imprinted

Turner syndrome and haploinsufficiency

Turner syndrome: the case of the missing sex chromosome

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

Unconventional Wisdom About the Obesity Epidemic Symbol ⬇️