Lista de obras - Jadwiga Jaruzelska - Dominio Público Uruguay

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

A case of true hermaphroditism

artículo científico publicado en 1997

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

artículo científico

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

artículo científico publicado en 1992

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

artículo científico publicado en 1999

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

artículo científico publicado en 1993

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

artículo científico publicado en 2006

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

artículo científico publicado en 2020

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

artículo científico publicado en 2003

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

artículo científico publicado en 2004

Genes of small nuclear RNA

artículo científico publicado en 1984

Genetic background of clinical homogeneity of phenylketonuria in Poland

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2001

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

artículo científico publicado en 2006

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

artículo científico publicado en 2004

In situ localization of HLA class I mRNA in human testis

artículo científico publicado en 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

artículo científico publicado en 1999

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

artículo científico publicado en 1999

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 2011

NANOS3 gene mutations in men with isolated sterility phenotype

artículo científico publicado en 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

artículo científico publicado en 2000

Polymorphisms of the human PUMILIO2 gene and male sterility

artículo científico publicado en 2007

Role of PUM RNA-Binding Proteins in Cancer

artículo científico publicado en 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?

artículo científico publicado en 1995

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

artículo científico publicado en 1981

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

artículo científico publicado en 1999

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

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

artículo científico publicado en 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]

artículo científico publicado en 2000

[Molecular basis of phenylketonuria]

scientific article published on 01 January 1990

Lista de obras de 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

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

A case of true hermaphroditism

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

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

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

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

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

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

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

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

Deletion mapping of interval 6 of the human Y chromosome

Familial X/Y translocations associated with variable sexual phenotype

Genes of small nuclear RNA

Genetic background of clinical homogeneity of phenylketonuria in Poland

Haplotype analysis of phenylalanine hydroxylase alleles in polish families with phenylketonuria

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

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

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

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

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

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

In situ localization of HLA class I mRNA in human testis

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

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

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

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

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

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

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.

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

NANOS3 gene mutations in men with isolated sterility phenotype

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

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

Polymorphisms of the human PUMILIO2 gene and male sterility

Role of PUM RNA-Binding Proteins in Cancer

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

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

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

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

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

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

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

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

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

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

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

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

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

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

[Molecular basis of phenylketonuria]