List of works - Maciej Krawczyński

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

scientific article published on 13 June 2013

A new case of DOOR syndrome.

scientific article published in January 2008

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

scientific article

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

scientific article

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.

scientific article

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

scientific article published on 16 August 2017

Co-occurrence of Jalili syndrome and muscular overgrowth.

scientific article published on 6 June 2017

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

scientific article

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

scientific article published on 01 January 2016

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

scientific article

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

scientific article published on January 1, 2003

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

scientific article published on January 1, 2003

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

scientific article published on 13 December 2012

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in January 1995

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

scientific article published on January 1, 1995

Granular corneal dystrophy in 830-nm spectral optical coherence tomography

scientific article

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

scientific article published on February 2013

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

scientific article published in 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

scientific article published on 23 June 2018

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

scientific article

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

scientific article

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

scientific article published on 01 August 2020

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

scientific article published on 21 November 2015

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

scientific article published on 27 October 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)

scientific article

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

scientific article

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

scientific article

PAX6 3' deletion in a family with aniridia

scientific article published on 10 October 2011

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

scientific article published in July 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

scientific article published on 6 June 2013

The genetics of aniridia - simple things become complicated

scientific article published on 19 February 2018

Transverse testicular ectopia with abnormal karyotype - a case report.

scientific article published in January 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

scientific article published on 31 August 2017

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

scientific article published on 30 August 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]

scientific article published on 01 November 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]

scientific article published on 01 January 2004

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

scientific article published on 01 June 1995

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

scientific article published on 19 April 2014

List of works by 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.