UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 37

Sortiert nach

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Molecular genetics & genomic medicine, 2019-05, Vol.7 (5), p.e625-n/a

2019

Volltextzugriff (PDF)

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2710-2719

2018

Volltextzugriff (PDF)

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos

American journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.1001-1006

2011

Volltextzugriff (PDF)

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome

Molecular genetics & genomic medicine, 2020-07, Vol.8 (7), p.e1215-n/a

2020

Volltextzugriff (PDF)

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma

PloS one, 2016-07, Vol.11 (7), p.e0160016-e0160016

2016

Volltextzugriff (PDF)

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

Genes, 2021-11, Vol.12 (11), p.1824

2021

Volltextzugriff (PDF)

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

Journal of human genetics, 2018-11, Vol.63 (11), p.1169-1180

2018

Volltextzugriff (PDF)

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

Genes, 2020-03, Vol.11 (4), p.378

2020

Volltextzugriff (PDF)

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3294-3297

2016

Volltextzugriff (PDF)

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy

Clinical & experimental ophthalmology, 2010-05, Vol.38 (4), p.367-374

2010

Volltextzugriff (PDF)

Epidemiología del glaucoma congénito en la Asociación para Evitar la Ceguera en México, revisión de 5 años

Revista mexicana de oftalmología, 2015-07, Vol.89 (3), p.150-153

2015

Volltextzugriff (PDF)

Microscopia confocal en opacidades corneales asociadas a ictiosis ligada a X: reporte de caso

Revista mexicana de oftalmología, 2014-04, Vol.88 (2), p.85-88

2014

Volltextzugriff (PDF)

Nervios corneales prominentes como manifestación inicial en el síndrome de neoplasia endocrina múltiple tipo 2B

Revista mexicana de oftalmología, 2015-10, Vol.89 (4), p.246-249

2015

Volltextzugriff (PDF)

Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene

Ophthalmic genetics, 2020-11, Vol.41 (6), p.625-628

2020

Volltextzugriff (PDF)

Mosaic cat eye syndrome in a child with unilateral iris coloboma

Ophthalmic genetics, 2021-02, Vol.42 (1), p.84-87

2021

Volltextzugriff (PDF)

Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia

Cornea, 2018-02, Vol.37 (2), p.252

2018

Volltextzugriff (PDF)

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

Human genetics, 2022-04, Vol.141 (3-4), p.785-803

2022

Volltextzugriff (PDF)

Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant

Ophthalmic genetics, 2022-06, Vol.43 (3), p.413-419

2022

Volltextzugriff (PDF)

Ruptura de globo ocular y síndrome de Ehlers-Danlos VI

Revista mexicana de oftalmología, 2018-07, Vol.92 (4S), p.209-213

2018

Volltextzugriff (PDF)

The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia

Ophthalmic genetics, 2019-11, Vol.40 (6), p.584-587

2019

Volltextzugriff (PDF)

Familial case of Blau syndrome associated with a CARD15/NOD2 mutation

Ophthalmic genetics, 2010-09, Vol.31 (3), p.155-158

2010

Volltextzugriff (PDF)

Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients

Ophthalmic genetics, 2018-11, Vol.39 (6), p.728-734

2018

Volltextzugriff (PDF)

Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: Description of novel mutations and novel genotype–phenotype correlations

Experimental eye research, 2009-08, Vol.89 (2), p.172-177

2009

Volltextzugriff (PDF)

Progression of gyrate atrophy measured with ultra-wide-field imaging

International ophthalmology, 2016-02, Vol.36 (1), p.111-120

2016

Volltextzugriff (PDF)

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations

Molecular vision, 2008-09, Vol.14, p.1650-1658

2008

Volltextzugriff (PDF)

1 – 25 von 37

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(29)
Mit Volltextzugriff
(23)

Publikationsform

Artikel
(31)
Berichte
(6)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy

Epidemiología del glaucoma congénito en la Asociación para Evitar la Ceguera en México, revisión de 5 años

Microscopia confocal en opacidades corneales asociadas a ictiosis ligada a X: reporte de caso

Nervios corneales prominentes como manifestación inicial en el síndrome de neoplasia endocrina múltiple tipo 2B

Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene

Mosaic cat eye syndrome in a child with unilateral iris coloboma

Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant

Ruptura de globo ocular y síndrome de Ehlers-Danlos VI

The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia

Familial case of Blau syndrome associated with a CARD15/NOD2 mutation

Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients

Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: Description of novel mutations and novel genotype–phenotype correlations

Progression of gyrate atrophy measured with ultra-wide-field imaging

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations

Suchergebnisse filtern