Lista de obras - Maciej Krawczyński - Dominio Público Uruguay

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia

artículo científico publicado en 2013

A new case of DOOR syndrome.

artículo científico publicado en 2008

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

artículo científico publicado en 2009

A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment

artículo científico publicado en 2013

Achromatopsia mutations target sequential steps of ATF6 activation.

scientific article published on 27 December 2016

Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss.

artículo científico publicado en 2004

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

artículo científico publicado en 2017

Co-occurrence of Jalili syndrome and muscular overgrowth.

artículo científico publicado en 2017

Current models of care for disorders of sex development - results from an International survey of specialist centres

artículo científico publicado en 2016

Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation

artículo científico publicado en 2016

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

artículo científico publicado en 2014

Formation of congenital defects during ocular development. I. Embryogenesis of the eye and developmental birth defects

artículo científico publicado el 1 de enero de 2003

Formation of congenital defects during ocular development. II. Genetic background of oculogenesis and developmental birth defects

artículo científico publicado el 1 de enero de 2003

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis

artículo científico publicado en 2012

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

artículo científico publicado en 2010

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)

artículo científico publicado en 2015

Genetic evaluation of patients with Alström syndrome in the Polish population.

artículo científico publicado en 2015

Genetics of congenital color vision defects. I. Common types of color blindness

artículo científico publicado en 1995

Genetics of congenital color vision defects. II. Rare types of color blindness

artículo científico publicado el 1 de enero de 1995

Granular corneal dystrophy in 830-nm spectral optical coherence tomography

artículo científico publicado en 2008

Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report

artículo científico publicado en 2013

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

artículo científico publicado en 2022

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorder of sex development

article

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop

artículo científico publicado en 2018

Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome

artículo científico publicado en 2014

Metastasis of basal cell carcinoma to lymph nodes in a patient with Gorlin syndrome – and literature review

artículo científico publicado en 2011

Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

artículo científico publicado en 2020

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

artículo científico publicado en 2015

Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner

artículo científico publicado en 2020

Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment

scientific article published on 12 December 2018

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

artículo científico publicado en 2020

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

artículo científico publicado en 2018

Only neutral polymorphisms found in the TIGR/myocilin gene of 45 Polish patients with primary open-angle glaucoma

artículo científico publicado en 2004

PAX6 3' deletion in a family with aniridia

artículo científico publicado en 2011

PCD and RP: X-linked inheritance of both disorders?

artículo científico publicado en 2004

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35

scientific article published on 17 August 2020

Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome

artículo científico publicado en 2013

The genetics of aniridia - simple things become complicated

artículo científico publicado en 2018

Transverse testicular ectopia with abnormal karyotype - a case report

artículo científico publicado el 1 de enero de 2011

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

scientific article published on 03 February 2020

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development

artículo científico publicado en 2017

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes

artículo científico publicado en 2016

[Genetic basis of Leber's hereditary optic neuroretinopathy]

scientific article published on 01 June 1993

[Genetic basis of hereditary optic atrophies]

scientific article published on 01 January 2007

[Genetic ground of primary open angle glaucoma]

scientific article published on 01 January 2004

[Genetic heterogeneity of retinitis pigmentosa]

scientific article published on 01 January 1994

[Genetically determined retinoblastoma]

artículo científico publicado en 1993

[Marshall syndrome--case report]

scientific article published on 01 January 1995

[Rieger's syndrome in a 12 year old girl]

scientific article published on 01 October 1994

[Study of TIGR gene in patients with primary open angle glaucoma]

artículo científico publicado en 2004

[The role of complex diagnostic examination in von Hippel-Lindau disease]

artículo científico publicado en 1995

m.3635G>A mutation as a cause of Leber hereditary optic neuropathy.

artículo científico publicado en 2014

Lista de obras de Maciej Krawczyński

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia

A new case of DOOR syndrome.

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment

Achromatopsia mutations target sequential steps of ATF6 activation.

Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss.

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

Co-occurrence of Jalili syndrome and muscular overgrowth.

Current models of care for disorders of sex development - results from an International survey of specialist centres

Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

Formation of congenital defects during ocular development. I. Embryogenesis of the eye and developmental birth defects

Formation of congenital defects during ocular development. II. Genetic background of oculogenesis and developmental birth defects

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)

Genetic evaluation of patients with Alström syndrome in the Polish population.

Genetics of congenital color vision defects. I. Common types of color blindness

Genetics of congenital color vision defects. II. Rare types of color blindness

Granular corneal dystrophy in 830-nm spectral optical coherence tomography

Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorder of sex development

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop

Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome

Metastasis of basal cell carcinoma to lymph nodes in a patient with Gorlin syndrome – and literature review

Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner

Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

Only neutral polymorphisms found in the TIGR/myocilin gene of 45 Polish patients with primary open-angle glaucoma

PAX6 3' deletion in a family with aniridia

PCD and RP: X-linked inheritance of both disorders?

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35

Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome

The genetics of aniridia - simple things become complicated

Transverse testicular ectopia with abnormal karyotype - a case report

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes

[Genetic basis of Leber's hereditary optic neuroretinopathy]

[Genetic basis of hereditary optic atrophies]

[Genetic ground of primary open angle glaucoma]

[Genetic heterogeneity of retinitis pigmentosa]

[Genetically determined retinoblastoma]

[Marshall syndrome--case report]

[Rieger's syndrome in a 12 year old girl]

[Study of TIGR gene in patients with primary open angle glaucoma]

[The role of complex diagnostic examination in von Hippel-Lindau disease]

m.3635G>A mutation as a cause of Leber hereditary optic neuropathy.