List of works - Anna Wawrocka

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

scientific article published on 13 June 2013

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

scientific article published on 16 August 2017

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations

scientific article published on 14 November 2017

Co-occurrence of Jalili syndrome and muscular overgrowth.

scientific article published on 6 June 2017

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

scientific article published on 01 February 2020

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

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

scientific article

Granular corneal dystrophy in 830-nm spectral optical coherence tomography

scientific article

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

scientific article published in 2022

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

scientific article published on 23 March 2017

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

scientific article

PAX6 3' deletion in a family with aniridia

scientific article published on 10 October 2011

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 first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.

scientific article

The genetics of aniridia - simple things become complicated

scientific article published on 19 February 2018

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

[Genetic basis of hereditary optic atrophies]

scientific article published on 01 January 2007

List of works by Anna Wawrocka

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

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

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations

Co-occurrence of Jalili syndrome and muscular overgrowth.

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

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

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

Granular corneal dystrophy in 830-nm spectral optical coherence tomography

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

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

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

PAX6 3' deletion in a family with aniridia

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 first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.

The genetics of aniridia - simple things become complicated

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

[Genetic basis of hereditary optic atrophies]