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List of works by Jadwiga Jaruzelska

A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome

scientific article published on 08 June 2018

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

scientific article published on 7 November 2015

A case of true hermaphroditism

scientific article published in September 1997

A familial X/Y translocation: cytogenetic and molecular study.

scientific article published on January 2001

A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria

scientific article published in December 1992

A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.

scientific article

A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families

scientific article published on 01 July 1993

An improved, non-isotopic method of screening cells from patients with abnormalities of sexual differentiation for Y chromosomal DNA content

scientific article

Candidate mRNAs interacting with fertility protein PUMILIO2 in the human germ line.

scientific article

Characterization of RNP Networks of PUM1 and PUM2 Post-Transcriptional Regulators in TCam-2 Cells, a Human Male Germ Cell Model

scientific article published on 16 April 2020

Conservation of a Pumilio-Nanos complex from Drosophila germ plasm to human germ cells

scientific article

Deletion mapping of interval 6 of the human Y chromosome

scientific article published on 01 June 1991

Familial X/Y translocations associated with variable sexual phenotype

scientific article published in June 2004

Genes of small nuclear RNA

scientific article published in January 1984

Genetic background of clinical homogeneity of phenylketonuria in Poland

scientific article published on March 1993

Haplotype analysis of phenylalanine hydroxylase alleles in polish families with phenylketonuria

scientific article published on 01 January 1989

Human NANOS1 Represses Apoptosis by Downregulating Pro-Apoptotic Genes in the Male Germ Cell Line

scientific article published on 24 April 2020

Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins

scientific article

Human Y-chromosome variation in the western Mediterranean area: implications for the peopling of the region

scientific article (publication date: September 2001)

Human fertility protein PUMILIO2 interacts in vitro with testis mRNA encoding Cdc42 effector 3 (CEP3).

scientific article

IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria

article

Identification of a novel gene, DZIP (DAZ-interacting protein), that encodes a protein that interacts with DAZ (deleted in azoospermia) and is expressed in embryonic stem cells and germ cells

scientific article

In situ localization of HLA class I mRNA in human testis

scientific article published on 01 January 1993

In vitro splicing deficiency induced by a C to T mutation at position -3 in the intron 10 acceptor site of the phenylalanine hydroxylase gene in a patient with phenylketonuria

scientific article published on 01 September 1995

Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome

scientific article

Is selection responsible for the low level of variation in the last intron of the ZFY locus?

scientific article

Kinesin KIF18A is a novel PUM-regulated target promoting mitotic progression and survival of a human male germ cell line

scientific article published on 06 April 2020

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

scientific article

Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion

scientific article published in November 2001

Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia.

scientific article

NANOS1 and PUMILIO2 bind microRNA biogenesis factor GEMIN3, within chromatoid body in human germ cells

scientific article

NANOS3 gene mutations in men with isolated sterility phenotype

scientific article published on 01 September 2009

PUM1 and PUM2 exhibit different modes of regulation for SIAH1 that involve cooperativity with NANOS paralogues

scientific article published on 29 September 2018

Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa

scientific article

Polymorphisms of the human PUMILIO2 gene and male sterility

scientific article

Role of PUM RNA-Binding Proteins in Cancer

scientific article published on 03 January 2021

SPIN1 is a proto-oncogene and SPIN3 is a tumor suppressor in human seminoma

scientific article published on 21 August 2018

SRY gen--primary "switch" in human sex determination?

scientific article published in January 1995

Small nuclear RNAs synthesis in PHA-stimulated and nonstimulated human peripheral blood lymphocytes.

scientific article published in March 1981

Spatial and temporal distribution of the neutral polymorphisms in the last ZFX intron: analysis of the haplotype structure and genealogy

scientific article (publication date: July 1999)

T-psi-C: user friendly database of tRNA sequences and structures

scientific article published on 01 January 2020

The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome

scientific article published on 09 November 2020

The SNARE-associated component SNAPIN binds PUMILIO2 and NANOS1 proteins in human male germ cells

scientific article

The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria

scientific article published on 01 January 1991

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice

scientific article published on 07 January 2020

The highly conserved NANOS2 protein: testis-specific expression and significance for the human male reproduction

scientific article

Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects.

scientific article published in May 2005

[Importance of cytogenetic analysis in patients with azoospermia or severe oligozoospermia undergoing in vitro fertilization]

scientific article published on 01 November 2001

[Metabolism and biological function of low-molecular nuclear RNA]

scientific article published on 01 January 1982

[Molecular analysis of protein 4.1 gene in teratozoospermic and azoospermic patients]

scientific article published on 01 January 2000

[Molecular basis of phenylketonuria]

scientific article published on 01 January 1990

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