Lista de obras - Christian T Thiel - Dominio Público Uruguay

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings

scientific article published on 11 December 2018

A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization

artículo científico publicado en 2013

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

artículo científico publicado en 2003

Achondrogenesis Type IA (Houston-Harris): A Still-Unresolved Molecular Phenotype

artículo científico publicado en 2007

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Biallelic SEMA3A defects cause a novel type of syndromic short stature

artículo científico publicado en 2013

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome

artículo científico publicado en 2018

Clinical and mutational spectrum of Mowat-Wilson syndrome

artículo científico publicado en 2005

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

artículo científico publicado en 2017

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

artículo científico publicado en 2012

Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations

artículo científico publicado en 2014

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

artículo científico publicado en 2005

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

artículo científico publicado en 2017

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

artículo científico publicado en 2006

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies

artículo científico publicado en 2009

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice

artículo científico publicado en 2011

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

artículo científico publicado en 2016

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

artículo científico publicado en 2016

Erratum: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

scholarly article published in Nature Genetics

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

scientific article published on 26 February 2019

Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia

scientific article published on 01 April 2005

Exome Pool-Seq in neurodevelopmental disorders.

artículo científico publicado en 2017

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum

artículo científico publicado en 2011

Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis

artículo científico publicado en 2018

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

artículo científico publicado en 2018

Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients

artículo científico publicado en 2017

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

artículo científico publicado en 2017

Genome-wide copy number profiling using a 100K SNP array reveals novel disease-related genes BORIS and TSHZ1 in juvenile angiofibroma

artículo científico publicado en 2011

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome

artículo científico publicado en 2009

Identification of Alu elements mediating a partial PMP22 deletion

article by Verena Matejas et al published 29 March 2006 in Neurogenetics

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation.

artículo científico publicado en 2014

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

artículo científico publicado en 2007

Molecular karyotyping using an SNP array for genomewide genotyping.

artículo científico publicado en 2004

Mutations in CDK5RAP2 cause Seckel syndrome

artículo científico publicado en 2015

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

scientific article published on 29 April 2019

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

artículo científico publicado en 2018

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

artículo científico publicado en 2008

NEK1 mutations cause short-rib polydactyly syndrome type majewski

artículo científico publicado en 2011

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1

article

PEDIA: prioritization of exome data by image analysis

artículo científico publicado en 2019

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

artículo científico publicado en 2012

Rare copy number variants are a common cause of short stature

artículo científico publicado en 2013

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

artículo científico publicado en 2005

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

artículo científico publicado en 2005

TRIM28 haploinsufficiency predisposes to Wilms tumor

scientific article published on 14 February 2019

The clinical significance of small copy number variants in neurodevelopmental disorders

artículo científico publicado en 2014

The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum ⬇️

artículo científico publicado el 1 de febrero de 2011

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

artículo científico publicado en 2018

The smallest teeth in the world are caused by mutations in the PCNT gene

article

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders

artículo científico publicado en 2013

Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome

artículo científico publicado en 2008

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum

artículo científico publicado en 2007

Lista de obras de Christian T Thiel

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings

A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

Achondrogenesis Type IA (Houston-Harris): A Still-Unresolved Molecular Phenotype

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

Biallelic SEMA3A defects cause a novel type of syndromic short stature

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome

Clinical and mutational spectrum of Mowat-Wilson syndrome

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

Erratum: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia

Exome Pool-Seq in neurodevelopmental disorders.

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum

Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

Genome-wide copy number profiling using a 100K SNP array reveals novel disease-related genes BORIS and TSHZ1 in juvenile angiofibroma

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome

Identification of Alu elements mediating a partial PMP22 deletion

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation.

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

Molecular karyotyping using an SNP array for genomewide genotyping.

Mutations in CDK5RAP2 cause Seckel syndrome

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

NEK1 mutations cause short-rib polydactyly syndrome type majewski

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1

PEDIA: prioritization of exome data by image analysis

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Rare copy number variants are a common cause of short stature

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

TRIM28 haploinsufficiency predisposes to Wilms tumor

The clinical significance of small copy number variants in neurodevelopmental disorders

The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum ⬇️

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

The smallest teeth in the world are caused by mutations in the PCNT gene

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders

Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum

Wachstumsstörungen als Leitsymptom