Lista de obras - Björn Fischer-Zirnsak - Dominio Público Uruguay

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa

artículo científico publicado en 2016

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

artículo científico publicado en 2016

AutozygosityMapper: Identification of disease-mutations in consanguineous families

artículo científico publicado en 2022

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

artículo científico publicado en 2016

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

artículo científico publicado en 2013

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

scientific article published on 12 March 2012

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

artículo científico publicado en 2017

Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2

artículo científico publicado en 2022

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

artículo científico publicado en 2014

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

artículo científico publicado en 2020

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

artículo científico publicado en 2011

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

artículo científico publicado en 2012

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

artículo científico publicado en 2011

GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.

artículo científico publicado en 2015

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

artículo científico publicado en 2013

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

artículo científico publicado en 2019

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

scientific journal article

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

artículo científico publicado en 2014

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

artículo científico publicado en 2007

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model

artículo científico publicado en 2015

MutationDistiller: user-driven identification of pathogenic DNA variants

artículo científico publicado en 2019

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein

artículo científico publicado en 2010

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

artículo científico publicado en 2016

Mutations in PYCR1 cause cutis laxa with progeroid features

artículo científico publicado en 2009

Mutations in WNT1 cause different forms of bone fragility

artículo científico publicado en 2013

NOA1 is an essential GTPase required for mitochondrial protein synthesis

scientific journal article

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

artículo científico publicado en 2010

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

scientific journal article

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

scientific article published on 24 April 2019

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1

artículo científico publicado en 2018

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

artículo científico publicado en 2014

Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.

artículo científico publicado en 2006

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.

scientific article published on 08 January 2009

Lista de obras de Björn Fischer-Zirnsak

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

AutozygosityMapper: Identification of disease-mutations in consanguineous families

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

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

Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).

GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model

MutationDistiller: user-driven identification of pathogenic DNA variants

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Mutations in PYCR1 cause cutis laxa with progeroid features

Mutations in WNT1 cause different forms of bone fragility

NOA1 is an essential GTPase required for mitochondrial protein synthesis

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.