UB Paderborn / Katalog / Suche / in CDI

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

American journal of human genetics, 2012-08, Vol.91 (2), p.252-264

2012

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Network Profiling of Brain-Expressed X-Chromosomal MicroRNA Genes Implicates Shared Key MicroRNAs in Intellectual Disability

Journal of molecular neuroscience, 2019-02, Vol.67 (2), p.295-304

2019

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rs3851179 Polymorphism at 5′ to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population

Neuromolecular medicine, 2017-09, Vol.19 (2-3), p.293-299

2017

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Finding FMR1 mosaicism in Fragile X syndrome

Expert review of molecular diagnostics, 2016-04, Vol.16 (4), p.501-507

2016

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A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations

European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.644-651

2014

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Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease

Neuroscience letters, 2010-11, Vol.485 (2), p.121-124

2010

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High Frequency of Nonrecurrent MECP2 Duplications Among Brazilian Males with Mental Retardation

Journal of molecular neuroscience, 2010-05, Vol.41 (1), p.105-109

2010

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p.Q223R leptin receptor polymorphism associated with obesity in Brazilian multiethnic subjects

American journal of human biology, 2006-07, Vol.18 (4), p.448-453

2006

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Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology

Journal of human genetics, 2006-08, Vol.51 (8), p.737-740

2006

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Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome

European journal of medical genetics, 2021-12, Vol.64 (12), p.104367-104367, Article 104367

2021

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Strict network analysis of evolutionary conserved and brain-expressed genes reveals new putative candidates implicated in Intellectual Disability and in Global Development Delay

The world journal of biological psychiatry, 2021-07, Vol.22 (6), p.435-445

2021

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KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature

European journal of medical genetics, 2014-03, Vol.57 (4), p.138-144

2014

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Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease

Parkinsonism & related disorders, 2015-07, Vol.21 (7), p.825-826

2015

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Influence of low frequency PSEN1 variants on familial Alzheimer’s disease risk in Brazil

Neuroscience letters, 2017-07, Vol.653, p.341-345

2017

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Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease

Disease markers, 2013-01, Vol.35 (3), p.181-185

2013

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Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability

Journal of human genetics, 2015-04, Vol.60 (4), p.207-211

2015

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Circulating Endocannabinoids and the Polymorphism 385C>A in Fatty Acid Amide Hydrolase (FAAH) Gene May Identify the Obesity Phenotype Related to Cardiometabolic Risk: A Study Conducted in a Brazilian Population of Complex Interethnic Admixture

PloS one, 2015-11, Vol.10 (11), p.e0142728-e0142728

2015

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Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing

Molecular neurobiology, 2020-09, Vol.57 (9), p.3671-3684

2020

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Circulating Endocannabinoids and the Polymorphism 385CA in Fatty Acid Amide Hydrolase (FAAH) Gene May Identify the Obesity Phenotype Related to Cardiometabolic Risk: A Study Conducted in a Brazilian Population of Complex Interethnic Admixture

PloS one, 2015-11, Vol.10 (11)

2015

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Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat

Neuroscience letters, 2006-04, Vol.397 (3), p.245-248

2006

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The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males

Neuroscience letters, 2005-04, Vol.379 (1), p.13-16

2005

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Geleophysic dysplasia: Report on two sibs

Genetics and molecular biology, 1998-03, Vol.21 (1), p.159-162

1998

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Chromosome 6q deletion: Report of a new case and review of the literature

Genetics and molecular biology, 1998-03, Vol.21 (1), p.145-149

1998

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A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder

Brain & development (Tokyo. 1979), 2011-11, Vol.33 (10), p.807-809

2011

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Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project

PloS one, 2023-10, Vol.18 (10), p.e0292180-e0292180

2023

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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

Network Profiling of Brain-Expressed X-Chromosomal MicroRNA Genes Implicates Shared Key MicroRNAs in Intellectual Disability

rs3851179 Polymorphism at 5′ to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population

Finding FMR1 mosaicism in Fragile X syndrome

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations

Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease

High Frequency of Nonrecurrent MECP2 Duplications Among Brazilian Males with Mental Retardation

p.Q223R leptin receptor polymorphism associated with obesity in Brazilian multiethnic subjects

Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome

Strict network analysis of evolutionary conserved and brain-expressed genes reveals new putative candidates implicated in Intellectual Disability and in Global Development Delay

KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature

Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease

Influence of low frequency PSEN1 variants on familial Alzheimer’s disease risk in Brazil

Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease

Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability

Circulating Endocannabinoids and the Polymorphism 385C>A in Fatty Acid Amide Hydrolase (FAAH) Gene May Identify the Obesity Phenotype Related to Cardiometabolic Risk: A Study Conducted in a Brazilian Population of Complex Interethnic Admixture

Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing

Circulating Endocannabinoids and the Polymorphism 385CA in Fatty Acid Amide Hydrolase (FAAH) Gene May Identify the Obesity Phenotype Related to Cardiometabolic Risk: A Study Conducted in a Brazilian Population of Complex Interethnic Admixture

Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat

The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males

Geleophysic dysplasia: Report on two sibs

Chromosome 6q deletion: Report of a new case and review of the literature

A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder

Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project

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