Lista de obras - Patrick Nitschké - Dominio Público Uruguay

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

artículo científico publicado en 2013

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

artículo científico publicado en 2017

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

artículo científico publicado en 2014

A human immunodeficiency caused by mutations in the PIK3R1 gene

artículo científico publicado en 2014

A human immunodeficiency caused by mutations in the PIK3R1 gene

article

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia

artículo científico

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

artículo científico publicado en 2013

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

artículo científico publicado en 2013

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

artículo científico publicado en 2017

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

scientific article published on 01 January 2019

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

artículo científico publicado en 2015

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

artículo científico publicado en 2011

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

artículo científico publicado en 2009

Contiguous mutation syndrome in the era of high-throughput sequencing

artículo científico publicado en 2015

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

scientific journal article

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

artículo científico publicado en 2012

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

artículo científico publicado en 2017

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

artículo científico publicado en 2013

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

artículo científico publicado en 2014

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

artículo científico publicado en 2013

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

artículo científico publicado en 2012

FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

artículo científico publicado en 2012

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

artículo científico publicado en 2011

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

artículo científico publicado en 2018

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

artículo científico publicado en 2014

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

artículo científico publicado en 2010

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

artículo científico publicado en 2013

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

artículo científico publicado en 2014

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

artículo científico publicado en 2014

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

artículo científico publicado en 2017

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations ⬇️

artículo científico publicado en 2014

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

artículo científico publicado en 2011

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

artículo científico publicado en 2011

LMX1B mutations cause hereditary FSGS without extrarenal involvement

scientific article published on 16 May 2013

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis

artículo científico publicado en 2016

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

artículo científico publicado en 2020

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

artículo científico publicado en 2011

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

artículo científico publicado en 2012

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

artículo científico publicado en 2015

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

artículo científico publicado en 2009

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

artículo científico publicado en 2012

Mutation in TTI2 reveals a role for triple T complex in human brain development

artículo científico publicado en 2013

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

artículo científico publicado en 2015

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

scientific journal article

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

artículo científico publicado en 2012

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

artículo científico publicado en 2015

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

artículo científico publicado en 2016

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

scientific article published on 21 April 2013

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

artículo científico publicado en 2013

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

artículo científico publicado en 2013

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

artículo científico publicado en 2017

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

artículo científico publicado en 2011

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

artículo científico publicado en 2015

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome

artículo científico publicado en 2017

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

artículo científico publicado en 2012

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations

artículo científico publicado en 2018

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

artículo científico publicado en 2012

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

artículo científico publicado en 2011

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

Refining the phenotype associated with CASC5 mutation

artículo científico publicado en 2015

TCTN3 mutations cause Mohr-Majewski syndrome

artículo científico publicado en 2012

The human gene connectome as a map of short cuts for morbid allele discovery

artículo científico publicado en 2013

The human gene damage index as a gene-level approach to prioritizing exome variants

artículo científico publicado en 2015

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

artículo científico publicado en 2016

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

artículo científico publicado en 2017

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

scientific article published on 21 March 2013

XYLT1 mutations in Desbuquois dysplasia type 2.

scientific article published on 27 February 2014

Lista de obras de Patrick Nitschké

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

A human immunodeficiency caused by mutations in the PIK3R1 gene

A human immunodeficiency caused by mutations in the PIK3R1 gene

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

Contiguous mutation syndrome in the era of high-throughput sequencing

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations ⬇️

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

LMX1B mutations cause hereditary FSGS without extrarenal involvement

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

Mutation in TTI2 reveals a role for triple T complex in human brain development

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

Refining the phenotype associated with CASC5 mutation

TCTN3 mutations cause Mohr-Majewski syndrome

The human gene connectome as a map of short cuts for morbid allele discovery

The human gene damage index as a gene-level approach to prioritizing exome variants

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

XYLT1 mutations in Desbuquois dysplasia type 2.