Lista de obras - Lucjusz Jakubowski - Dominio Público Uruguay

A phase I/II study of decitabine in combination with panitumumab in patients with wild-type (wt) KRAS metastatic colorectal cancer ⬇️

artículo científico publicado el 17 de marzo de 2013

Air Pollution and Human Sperm Sex Ratio

artículo científico publicado en 2018

Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society

artículo científico publicado en 2017

Comparison of two methods for amniotic fluid cholinesterases identification in the qualitative test for prenatal diagnosis of neural tube defects

scientific article published on 01 November 1984

Copper/zinc superoxide dismutase (SOD-1) activity in regular trisomy 21, trisomy 21 by translocation and mosaic trisomy 21 ⬇️

artículo científico publicado el 1 de octubre de 1982

Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3→q31.3) ⬇️

artículo científico publicado el 1 de abril de 1993

Cytological examination of the amniotic fluid in normal pregnancy and in cases of fetal central nervous system abnormalities

artículo científico publicado en 1989

De novo direct tandem duplication of the short arm of chromosome 7(p21.1-p14.2).

artículo científico publicado en 1990

Development of a diagnostic technique based on Cherenkov effect for measurements of fast electrons in fusion devices ⬇️

artículo científico publicado el 1 de agosto de 2012

Dietary Patterns and the Frequency of Disomy in Human Sperm.

artículo científico publicado en 2016

Environmental exposure to parabens and sperm chromosome disomy

artículo científico publicado en 2017

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes

scientific article published on 29 January 2020

Exposure to widespread environmental endocrine disrupting chemicals and human sperm sex ratio

artículo científico publicado en 2016

Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome.

artículo científico publicado en 2015

Folate status, regulatory T cells and MTHFR C677T polymorphism study in allergic children

scientific article published on 08 April 2016

Genetic aspects of polycystic ovary syndrome

artículo científico publicado en 2005

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

artículo científico publicado en 2008

High risk of atherosclerosis in men aged 20-39 from Lodz agglomeration

artículo científico publicado en 2007

Human sperm aneuploidy after exposure to polycyclic aromatic hydrocarbons

artículo científico publicado en 2015

Human urinary phthalate metabolites level and main semen parameters, sperm chromatin structure, sperm aneuploidy and reproductive hormones.

artículo científico publicado en 2013

Large deletion in the KAL1 gene in two related patients with hypogonadotropic hypogonadism: diagnostic usefulness of cytogenetic and molecular methods

artículo científico publicado el 1 de enero de 2011

Lifestyle factors and sperm aneuploidy

artículo científico publicado en 2014

Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction

artículo científico publicado en 2000

Molecular methods for rapid detection of aneuploidy.

artículo científico publicado en 2005

Non-fluorescent Y chromosome in a 45,X/46,XY mosaic (author's transl)

artículo científico publicado el 1 de septiembre de 1978

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

artículo científico publicado en 2019

Occupational risk factors and frequency of sex chromosome disomy

artículo científico publicado en 2015

Recommendations for prenatal diagnostics of the Polish Society of Gynaecologists and Obstetricians and the Polish Society of Human Genetics

artículo científico publicado en 2022

Regular trisomy 21 not accompanied by increased copper-zinc superoxide dismutase (SOD1) activity

artículo científico publicado en 1988

Regulatory influence of melatonin on collagen accumulation in the infarcted heart scar

artículo científico publicado en 2008

Severe neonatal spondylometaphyseal dysplasia in two siblings

artículo científico publicado en 2009

The 48,XXXX/49,XXXXY/49,XXXX,i(Yq) mosaicism in a 3-year-old boy from a twin pregnancy ⬇️

artículo científico publicado el 26 de julio de 1977

The antimitotic effect of bromocriptine on human fibroblasts ⬇️

artículo científico publicado el 1 de enero de 1983

The antiproliferative effect of rat hypothalamic extract

scientific article published on 01 January 1984

The association between environmental exposure to pyrethroids and sperm aneuploidy.

artículo científico publicado en 2015

The level of extracellular superoxide dismutase in the first week of life in very and extremely low birth weight infants and the risk of developing bronchopulmonary dysplasia

artículo científico publicado en 2019

The relationship between exposure to air pollution and sperm disomy

artículo científico publicado en 2014

The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients

artículo científico

Two familial 9;17 translocations with variable effect on male carriers fertility

artículo científico publicado el 1 de abril de 1992

Two mosaic cases with nonfluorescent Y chromosome analysed with Y-specific DNA probes

scientific article published on 01 November 1988

Urinary total hydroxyproline excretion in patients with Turner's syndrome and Klinefelter's syndrome

artículo científico publicado en 1981

Value of X- and Y-body tests.

artículo científico publicado en 1977

Xp;Yp translocation inherited from the father in an SRY, RBM, and TSPY positive true hermaphrodite with oligozoospermia

artículo científico publicado en 2000

[Diaphragmatic hernia in reference hospital ICZMP--diagnostic problems and outcome]

scientific article published on 01 January 2008

[Nasal bone biometry in the second trimester of gestation]

scientific article published on 01 March 2006

[Neurological aspects of two patients with non-mosaic and mosaic polysomy of the X and Y chromosomes]

article

[Prenatal ultrasound findings in complete trisomy 9]

scientific article published on 01 May 2006

[The role of the connective tissue in healing process in myocardial infarction]

artículo científico publicado en 2005

[The state of the eye in children with Down syndrome caused by trisomy 21 translocation]

scientific article published on 01 June 1995

Lista de obras de Lucjusz Jakubowski

A phase I/II study of decitabine in combination with panitumumab in patients with wild-type (wt) KRAS metastatic colorectal cancer ⬇️

Air Pollution and Human Sperm Sex Ratio

Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society

Comparison of two methods for amniotic fluid cholinesterases identification in the qualitative test for prenatal diagnosis of neural tube defects

Copper/zinc superoxide dismutase (SOD-1) activity in regular trisomy 21, trisomy 21 by translocation and mosaic trisomy 21 ⬇️

Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3→q31.3) ⬇️

Cytological examination of the amniotic fluid in normal pregnancy and in cases of fetal central nervous system abnormalities

De novo direct tandem duplication of the short arm of chromosome 7(p21.1-p14.2).

Development of a diagnostic technique based on Cherenkov effect for measurements of fast electrons in fusion devices ⬇️

Dietary Patterns and the Frequency of Disomy in Human Sperm.

Environmental exposure to parabens and sperm chromosome disomy

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes

Exposure to widespread environmental endocrine disrupting chemicals and human sperm sex ratio

Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome.

Folate status, regulatory T cells and MTHFR C677T polymorphism study in allergic children

Genetic aspects of polycystic ovary syndrome

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

High risk of atherosclerosis in men aged 20-39 from Lodz agglomeration

Human sperm aneuploidy after exposure to polycyclic aromatic hydrocarbons

Human urinary phthalate metabolites level and main semen parameters, sperm chromatin structure, sperm aneuploidy and reproductive hormones.

Large deletion in the KAL1 gene in two related patients with hypogonadotropic hypogonadism: diagnostic usefulness of cytogenetic and molecular methods

Lifestyle factors and sperm aneuploidy

Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction

Molecular methods for rapid detection of aneuploidy.

Non-fluorescent Y chromosome in a 45,X/46,XY mosaic (author's transl)

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

Occupational risk factors and frequency of sex chromosome disomy

Recommendations for prenatal diagnostics of the Polish Society of Gynaecologists and Obstetricians and the Polish Society of Human Genetics

Regular trisomy 21 not accompanied by increased copper-zinc superoxide dismutase (SOD1) activity

Regulatory influence of melatonin on collagen accumulation in the infarcted heart scar

Severe neonatal spondylometaphyseal dysplasia in two siblings

The 48,XXXX/49,XXXXY/49,XXXX,i(Yq) mosaicism in a 3-year-old boy from a twin pregnancy ⬇️

The antimitotic effect of bromocriptine on human fibroblasts ⬇️

The antiproliferative effect of rat hypothalamic extract

The association between environmental exposure to pyrethroids and sperm aneuploidy.

The level of extracellular superoxide dismutase in the first week of life in very and extremely low birth weight infants and the risk of developing bronchopulmonary dysplasia

The relationship between exposure to air pollution and sperm disomy

The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients

Two familial 9;17 translocations with variable effect on male carriers fertility

Two mosaic cases with nonfluorescent Y chromosome analysed with Y-specific DNA probes

Urinary total hydroxyproline excretion in patients with Turner's syndrome and Klinefelter's syndrome

Value of X- and Y-body tests.

Xp;Yp translocation inherited from the father in an SRY, RBM, and TSPY positive true hermaphrodite with oligozoospermia

[Diaphragmatic hernia in reference hospital ICZMP--diagnostic problems and outcome]

[Nasal bone biometry in the second trimester of gestation]

[Neurological aspects of two patients with non-mosaic and mosaic polysomy of the X and Y chromosomes]

[Prenatal ultrasound findings in complete trisomy 9]

[The role of the connective tissue in healing process in myocardial infarction]

[The state of the eye in children with Down syndrome caused by trisomy 21 translocation]