Lista de obras -

A new anthropometric scale for discrimination between sexes

artículo científico publicado el 1 de marzo de 1992

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation

artículo científico publicado en 2005

Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation

artículo científico publicado en 2006

Autism spectrum phenotype in males and females with fragile X full mutation and premutation

artículo científico publicado en 2007

Behavioural and cognitive phenotypes in idiopathic autism versus autism associated with fragile X syndrome

artículo científico publicado en 2008

Clinical features and reproductive patterns in fragile X female heterozygotes ⬇️

artículo científico publicado el 1 de junio de 1988

Common Genetic Variants Influence Whorls in Fingerprint Patterns

artículo científico publicado en 2015

Comparative study of sole patterns in chromosomal abnormalities ⬇️

artículo científico publicado el 1 de junio de 1970

Dermatoglyphic distances and position of 21 trisomy mosaics ⬇️

artículo científico publicado el 1 de diciembre de 1979

Dermatoglyphic patterns in 9p trisomy syndrome

artículo científico publicado el 1 de marzo de 1978

Dermatoglyphic sole patterns in 21 trisomics ⬇️

artículo científico publicado el 1 de marzo de 1983

Dermatoglyphic total patterns on palms, finger-tips and soles in twins

artículo científico publicado el 1 de septiembre de 1978

Directional and fluctuating asymmetry in finger and a-b ridge counts in psychosis: a case-control study

artículo científico publicado en 2003

Discriminant analysis of dermatoglyphic measurements in fragile X males and females ⬇️

artículo científico publicado el 1 de marzo de 1988

Discriminant diagnosis of 21-trisomy mosaicism ⬇️

artículo científico publicado el 1 de septiembre de 1976

Discriminant functions and 21-trisomy mosaicism ⬇️

artículo científico publicado el 1 de octubre de 1975

Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots

artículo científico publicado en 2014

Effect of Turner's syndrome and X-linked imprinting on cognitive status: analysis based on pedigree data.

artículo científico publicado en 2005

Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile x males and females assessed by robust pedigree analysis

artículo científico publicado en 2002

Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X.

artículo científico publicado en 2003

Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females

artículo científico publicado en 2018

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

artículo científico publicado en 2011

Experience with direct molecular diagnosis of fragile X ⬇️

artículo científico publicado el 1 de junio de 1992

FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles

artículo científico publicado en 2011

Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy

artículo científico publicado el 15 de noviembre de 1992

Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.

artículo científico publicado en 2012

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

artículo científico publicado en 2012

Genetical distance and dermatoglyphic characters. II. Intrapopulation distance coefficients

artículo científico publicado el 1 de enero de 1978

Genetical studies of the palmar and sole patterns and some derrnatoǵlyphic measurements in twins ⬇️

artículo científico publicado el 1 de julio de 1979

Growth in stature and head circumference in high-functioning autism and Asperger disorder during the first 3 years of life

artículo científico publicado en 2006

Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS).

artículo científico publicado en 2012

Immortalized Parkinson's disease lymphocytes have enhanced mitochondrial respiratory activity

artículo científico publicado en 2016

Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS).

artículo científico publicado en 2006

Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome

artículo científico publicado en 2007

Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders

artículo científico publicado en 2009

Limb development genes underlie variation in human fingerprint patterns

artículo científico publicado en 2022

Linkage analysis of a model quantitative trait in humans: finger ridge count shows significant multivariate linkage to 5q14.1.

artículo científico publicado en 2007

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms

artículo científico publicado en 2009

Magnetic resonance imaging study in older fragile X premutation male carriers

artículo científico publicado en 2005

Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.

artículo científico publicado en 2010

Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X

artículo científico publicado en 2007

Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome.

artículo científico publicado en 2016

On the Analysis of Mixed Longitudinal Growth Data

artículo científico publicado el 1 de junio de 1998

Phenotypic variation and FMRP levels in fragile X.

artículo científico publicado en 2004

Problems in ascertainment of transmitting males in Martin-Bell syndrome ⬇️

artículo científico publicado el 15 de diciembre de 1991

Relationship of birth weight and length with growth in height and body diameters from 5 years of age to maturity

artículo científico publicado en 1999

Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubert

artículo científico publicado en 2013

Ridgecounter: a program for obtaining semi-automated finger ridge counts

artículo científico publicado en 2007

Search for heterozygosis in quantitative characters

artículo científico publicado el 1 de julio de 1978

Skeletal Growth Dysregulation in Australian Male Infants and Toddlers With Autism Spectrum Disorder

artículo científico publicado en 2018

The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers

scholarly article by Danuta Z Loesch et al published 2018 in Frontiers in Genetics

Topological formulation of finger-tip patterns: comparison of complete and incomplete 21 trisomics with normal subjects ⬇️

artículo científico publicado el 1 de junio de 1975

Topologically significant dermatoglyphic patterns in twins

artículo científico publicado el 1 de enero de 1977

Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the FMR1 Premutation

scientific article published on 13 August 2019

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.

artículo científico publicado en 2006

Unstable Mutations in the FMR1 Gene and the Phenotypes ⬇️

artículo científico publicado el 1 de enero de 2012

White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism ⬇️

artículo científico publicado el 28 de marzo de 2011

White matter changes in patients with Parkinson's disease carrying small CGG expansion FMR1 alleles: a pilot study

artículo científico publicado en 2013

Lista de obras de

A new anthropometric scale for discrimination between sexes

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation

Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation

Autism spectrum phenotype in males and females with fragile X full mutation and premutation

Behavioural and cognitive phenotypes in idiopathic autism versus autism associated with fragile X syndrome

Clinical features and reproductive patterns in fragile X female heterozygotes ⬇️

Common Genetic Variants Influence Whorls in Fingerprint Patterns

Comparative study of sole patterns in chromosomal abnormalities ⬇️

Dermatoglyphic distances and position of 21 trisomy mosaics ⬇️

Dermatoglyphic patterns in 9p trisomy syndrome

Dermatoglyphic sole patterns in 21 trisomics ⬇️

Dermatoglyphic total patterns on palms, finger-tips and soles in twins

Directional and fluctuating asymmetry in finger and a-b ridge counts in psychosis: a case-control study

Discriminant analysis of dermatoglyphic measurements in fragile X males and females ⬇️

Discriminant diagnosis of 21-trisomy mosaicism ⬇️

Discriminant functions and 21-trisomy mosaicism ⬇️

Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots

Effect of Turner's syndrome and X-linked imprinting on cognitive status: analysis based on pedigree data.

Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile x males and females assessed by robust pedigree analysis

Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X.

Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Experience with direct molecular diagnosis of fragile X ⬇️

FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles

Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy

Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

Genetical distance and dermatoglyphic characters. II. Intrapopulation distance coefficients

Genetical studies of the palmar and sole patterns and some derrnatoǵlyphic measurements in twins ⬇️

Growth in stature and head circumference in high-functioning autism and Asperger disorder during the first 3 years of life

Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS).

Immortalized Parkinson's disease lymphocytes have enhanced mitochondrial respiratory activity

Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS).

Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome

Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders

Limb development genes underlie variation in human fingerprint patterns

Linkage analysis of a model quantitative trait in humans: finger ridge count shows significant multivariate linkage to 5q14.1.

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms

Magnetic resonance imaging study in older fragile X premutation male carriers

Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.

Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X

Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome.

On the Analysis of Mixed Longitudinal Growth Data

Phenotypic variation and FMRP levels in fragile X.

Problems in ascertainment of transmitting males in Martin-Bell syndrome ⬇️

Relationship of birth weight and length with growth in height and body diameters from 5 years of age to maturity

Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubert

Ridgecounter: a program for obtaining semi-automated finger ridge counts

Search for heterozygosis in quantitative characters

Skeletal Growth Dysregulation in Australian Male Infants and Toddlers With Autism Spectrum Disorder

The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers

Topological formulation of finger-tip patterns: comparison of complete and incomplete 21 trisomics with normal subjects ⬇️

Topologically significant dermatoglyphic patterns in twins

Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the FMR1 Premutation

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.

Unstable Mutations in the FMR1 Gene and the Phenotypes ⬇️

White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism ⬇️

White matter changes in patients with Parkinson's disease carrying small CGG expansion FMR1 alleles: a pilot study