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Lista de obras de Vera Kalscheuer

-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

artículo científico publicado en 2018

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

artículo científico publicado en 2013

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

artículo científico publicado en 2015

A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females

artículo científico publicado en 2013

A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome

artículo científico publicado en 2013

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

artículo científico publicado en 2009

A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3.

scientific article published on 30 July 2016

A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation

artículo científico publicado en 2002

A new standard nomenclature for proteins related to Apx and Shroom

artículo científico publicado en 2006

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

artículo científico publicado en 2012

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

scholarly article by Wujood Khayat published in October 2018

A region on human chromosome 4 (q35.1-->qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis.

artículo científico publicado en 2005

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

artículo científico publicado en 2017

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

artículo científico publicado en 2002

Absence of an obvious molecular imprinting mechanism in a human fetus with monoallelic IGF2R expression.

artículo científico publicado en 1998

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

artículo científico publicado en 2014

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

artículo científico publicado en 2008

An excess of chromosome 1 breakpoints in male infertility

article

Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region

artículo científico publicado en 2005

Beta-heterochromatin in mammals: evidence from studies in Microtus agrestis based on the extensive accumulation of L1 and non-L1 retroposons in the heterochromatin

artículo científico publicado en 1998

Biallelic expression of the H19 and IGF2 genes in human testicular germ cell tumors

artículo científico publicado en 1994

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

artículo científico publicado en 2011

Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).

artículo científico publicado en 2008

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

artículo científico publicado en 2013

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

artículo científico publicado en 2009

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans

artículo científico publicado en 2006

Breakpoints around the HOXD cluster result in various limb malformations.

artículo científico publicado en 2005

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.

artículo científico publicado en 2012

CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.

artículo científico publicado en 2009

CDKL5 variants: Improving our understanding of a rare neurologic disorder

artículo científico publicado en 2017

Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.

artículo científico publicado en 2013

Characterization of FBX25, encoding a novel brain-expressed F-box protein

artículo científico publicado en 2006

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

artículo científico publicado en 2007

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.

artículo científico publicado en 2007

Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.

artículo científico publicado en 2010

Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS.

artículo científico publicado en 2004

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

artículo científico publicado en 2009

Chromosome deletions in 13q33–34: Report of four patients and review of the literature

article

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation

article

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

artículo científico publicado en 2010

Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics.

artículo científico publicado en 2001

Comprehensive Genotype-Phenotype Correlation in AP-4 Deficiency Syndrome; Adding Data from a Large Cohort of Iranian Patients

artículo científico publicado en 2020

Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation.

artículo científico publicado en 2003

Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic cell hybrids for predicting allelic origin of expression?

artículo científico publicado en 2001

Copy and paste: the impact of a new non-L1 retroposon on the gonosomal heterochromatin of Microtus agrestis

artículo científico publicado en 2002

Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16.

artículo científico publicado en 2015

DNase I sensitivity of Microtus agrestis active, inactive and reactivated X chromosomes in mouse-Microtus cell hybrids

artículo científico publicado en 1988

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

artículo científico publicado en 2017

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

artículo científico publicado en 2016

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

artículo científico publicado en 2018

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

artículo científico publicado en 2011

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1

scientific journal article

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

artículo científico publicado en 2005

Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS.

artículo científico publicado en 2012

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

artículo científico publicado en 2005

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

artículo científico publicado en 2008

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

artículo científico publicado en 2003

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

artículo científico publicado en 2006

Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus.

artículo científico publicado en 2004

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

artículo científico publicado en 2003

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

artículo científico publicado en 2013

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

artículo científico publicado en 2017

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality

artículo científico publicado en 2014

Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13).

artículo científico publicado en 2004

Effect of inbreeding on intellectual disability revisited by Trio sequencing

artículo científico publicado en 2018

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

artículo científico publicado en 2014

Epilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmission

artículo científico publicado en 2017

Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome

artículo científico publicado en 2005

Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

artículo científico publicado en 2009

Evaluation of the IRF-2 gene as a candidate for PSORS3.

artículo científico publicado en 2004

Evidence against a major role of PEG1/MEST in Silver-Russell syndrome

artículo científico publicado en 1998

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

artículo científico publicado en 2006

Evolution of the gonosomal heterochromatin of Microtus agrestis: rapid amplification of a large, multimeric, repeat unit containing a 3.0-kb (GATA)11-positive, middle repetitive element

artículo científico publicado en 1996

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

artículo científico publicado en 2006

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

artículo científico publicado en 2013

FRMPD4 Mutations Cause X-linked Intellectual Disability and Disrupt Dendritic Spine Morphogenesis.

artículo científico publicado en 2017

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.

artículo científico publicado en 2003

First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.

artículo científico publicado en 2005

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1).

artículo científico publicado en 2005

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability

artículo científico publicado en 2018

Gene Dosage Analysis in Silver-Russell Syndrome: Use of Quantitative Competitive PCR and Dual-Color FISH to Estimate the Frequency of Duplications in 7p11.2–p13

article

Genetics of intellectual disability in consanguineous families

artículo científico publicado en 2018

Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1.

artículo científico publicado en 2001

Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1

artículo científico publicado en 1999

Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13–14 (IBD2)

article

Germline KRAS mutations cause Noonan syndrome

artículo científico publicado en 2006

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

artículo científico publicado en 2015

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability

artículo científico publicado en 2013

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

artículo científico publicado en 2005

Haplotype sharing analysis identifies a retroviral dUTPase as candidate susceptibility gene for psoriasis

artículo científico publicado en 2005

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

artículo científico publicado en 2020

High rate of constitutional chromosomal rearrangements in apparently sporadic ALS

artículo científico publicado en 2003

Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion

artículo científico publicado en 2000

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

artículo científico publicado en 2011

Hypergonadotropic hypogonadism in a patient with inv ins (2;4).

artículo científico publicado en 2007

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

artículo científico publicado en 2015

Identification and characterization of G90, a novel mouse RNA that lacks an extensive open reading frame

artículo científico publicado en 1999

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.

artículo científico publicado en 2011

Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

artículo científico publicado en 2019

Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the ?2-COP (COPG2) gene by screening of Silver-Russell syndrome patients

artículo científico publicado en 2000

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.

artículo científico publicado en 2006

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

artículo científico publicado en 2014

In-frame deletion inMECP2 causes mild nonspecific mental retardation

artículo científico publicado en 2002

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

artículo científico publicado en 2015

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.

artículo científico publicado en 2014

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation

artículo científico publicado en 2013

Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome

artículo científico publicado en 2004

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.

artículo científico publicado en 2003

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

artículo científico publicado en 2014

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

artículo científico publicado en 2013

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

artículo científico publicado en 2003

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

artículo científico publicado en 2018

Mapping translocation breakpoints by next-generation sequencing

artículo científico publicado en 2008

Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription

artículo científico publicado en 1996

Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci

artículo científico publicado en 2011

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

artículo científico publicado en 2005

Modeling read counts for CNV detection in exome sequencing data

artículo científico publicado en 2011

Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

article published in 2005

Molecular cloning and characterization of the Fugu rubripes MEST/COPG2 imprinting cluster and chromosomal localization in Fugu and Tetraodon nigroviridis.

artículo científico publicado en 2000

Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.

artículo científico publicado en 2006

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.

artículo científico publicado en 2006

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.

artículo científico publicado en 2004

Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses

artículo científico publicado en 1997

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

scientific article published on 14 May 2019

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

artículo científico publicado en 2008

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

artículo científico publicado en 2012

Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability

artículo científico publicado en 2019

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

artículo científico publicado en 2009

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

artículo científico publicado en 2011

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly

article

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

artículo científico publicado en 2010

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

artículo científico publicado en 2014

Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin.

artículo científico publicado en 2012

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

artículo científico publicado en 2012

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

artículo científico publicado en 2007

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

artículo científico publicado en 2004

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

artículo científico publicado en 2004

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

artículo científico publicado en 2004

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

artículo científico publicado en 2003

Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy

artículo científico publicado en 2013

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

artículo científico publicado en 2003

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

artículo científico publicado en 2010

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

artículo científico publicado en 2016

New insights into Brunner syndrome and potential for targeted therapy.

artículo científico publicado en 2015

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

artículo científico publicado en 2011

No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues

artículo científico publicado en 1993

Nonsyndromic X-linked mental retardation: where are the missing mutations?

artículo científico publicado en 2003

Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations

article

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability

artículo científico publicado en 2011

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family

artículo científico publicado en 2015

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review

artículo científico publicado en 2020

Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations

artículo científico publicado en 2012

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

article

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

artículo científico publicado en 2017

Redefining the MED13L syndrome

artículo científico publicado en 2015

Regulation and expression of the murine Pmp22 gene

article

Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing

artículo científico publicado en 2004

Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia

artículo científico publicado en 2003

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

artículo científico publicado en 2003

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.

artículo científico publicado en 2004

Synaptic MAGUK multimer formation is mediated by PDZ domains and promoted by ligand binding

artículo científico publicado en 2013

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

artículo científico publicado en 2019

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

scientific journal article

TRPV1 acts as a synaptic protein and regulates vesicle recycling.

artículo científico publicado en 2010

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

artículo científico publicado en 2015

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.

artículo científico publicado en 2014

The MAS proto-oncogene is not imprinted in humans

artículo científico publicado en 1996

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

artículo científico publicado en 2003

The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans

article

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12 -related disorders

artículo científico publicado en 2018

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

artículo científico publicado en 2002

Transcriptional activity of constitutive heterochromatin in the mammal Microtus agrestis (Rodentia, Cricetidae).

artículo científico publicado en 1987

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

artículo científico publicado en 2012

Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy

artículo científico publicado en 2005

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

artículo científico publicado en 2008

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.

artículo científico publicado en 2005

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction

artículo científico publicado en 2017

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

artículo científico publicado en 2010

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability

artículo científico publicado en 2020

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.

artículo científico publicado en 2018

X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications

artículo científico publicado en 2001

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

artículo científico publicado en 2014

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

scientific journal article

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

artículo científico publicado en 2004

cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2.

artículo científico publicado en 2004

gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome

artículo científico publicado en 1999

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