List of works by Jacek Zaremba

A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency.

scientific article published on 26 January 2011

A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy.

scientific article published in June 2006

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene

scientific article published on 28 February 2017

An unusual pedigree with microcornea-cataract syndrome.

scientific article

Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).

scientific article published in March 2005

CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group

scientific article published on 01 January 2005

Chronic form of childhood spinal muscular atrophy. Are the problems of its genetics really solved?

scientific article published on 01 October 1979

Clinical and genetic characteristics of late-onset Huntington's disease

scientific article

Clinical and genetic study of juvenile form of Huntington's disease

scientific article published in March 2002

Cowden syndrome and the associated Lhermitte-Duclos disease--Case presentation

scientific article published on 30 July 2015

Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene

scientific article published on 06 July 2017

Detection of deletions within the dystrophin gene in Polish families affected with Duchenne/Becker muscular dystrophy

scientific article published on 01 March 1997

EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts

scientific article

EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.

scientific article

Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients

scientific article published on 07 March 2018

Familial occurrence of FXTAS caused by premutation in the FMR1 gene

scientific article

Familial occurrence of the LEOPARD syndrome.

scientific article published in January 1998

Frontotemporal lobar degeneration with MAPT mutation in an Italian-Polish family. A case report.

scientific article published in January 2014

Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease

scientific article published on 18 July 2006

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

article

Hereditary form of prion disease in Poland.

scientific article published in November 2012

High relative frequency of SCA1 in Poland reflecting a potential founder effect.

scientific article published on 19 May 2016

Jadassohn's naevus phakomatosis: 2. A study based on a review of thirty-seven cases

scientific article published on June 1, 1978

MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.

scientific article published on 24 October 2014

Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations

scientific article published in January 2009

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients

scientific article published on 17 October 2015

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

scientific article

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

scientific article published on 19 February 2019

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

scientific article published on 2 October 2015

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group.

scientific article

Prenatal diagnosis of Sanfilippo disease type B

scientific article published on 01 January 1984

Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay.

scientific article

Psychological and sociological investigation of XYY prisoners.

scientific article published in July 1970

Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.

scientific article

Ring chromosome 18 in a mentally retarded boy ⬇️

scientific article published on 01 June 1970

SCA8 repeat expansion coexists with SCA1--not only with SCA6.

scientific article published on October 2003

Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia

scientific article

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.

scientific article published on 28 December 2011

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.

scientific article published in May 2008

Spinocerebellar ataxias type 1 and 2: comparison of clinical, electrophysiological and magnetic resonance evaluation

scientific article published in July 2005

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

scientific article published on 01 January 2010

The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease

scientific article published on 21 December 2005

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

scientific article

The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients.

scientific article published on May 2010

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

scientific article

Tuberous sclerosis: a clinical and genetical investigation ⬇️

scientific article

Two Distinct Deletions in theIDSGene and the GeneW: A Novel Type of Mutation Associated with the Hunter Syndrome ⬇️

scientific article published on July 15, 1997

Two mutations in one dystrophin gene.

scientific article published in March 2013

Two neoplasms rich in small lymphocytes, B1B2 thymoma and small lymphocytic lymphoma, intermingled in one tumor mass. A case report.

scientific article published in January 2017

Unaffected patients with a homozygous absence of the SMN1 gene

scientific article published on 12 March 2008

WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients

retracted scientific article published on 17 May 2018

[A study on the occurrence of the deletion 22q11.2 in patients affected with a psychiatric disease].

scientific article

[Carrier detection in Duchenne/Becker muscular dystrophy in the families in which the DNA of the affected person is not available]

scientific article published on 01 January 2006

[Detection of rare mutations in the dystrophin gene]

scientific article published on 01 April 2009

[Genetic amniocentesis in the II Department of Obstetrics and Gynecology of the Medical University of Warsaw]

scientific article published on 01 August 2004

[Genetic amniocentesis--characteristic of patients, indications, outcomes, complications]

scientific article published on 01 July 2003

[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results]

scientific article published on 01 July 2004

[Rapid-onset dystonia-parkinsonism]

scientific article published on 01 January 2005

[The use of non-typical materials as a source of DNA in post-mortem diagnosis of spinal muscular atrophy]

scientific article published on 01 January 2004

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