Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family

Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.

European journal of medical genetics·2018

Ground-based assessment of the bias and long-term stability of fourteen limb and occultation ozone profile data records.

Atmospheric measurement techniques·2018

[New therapeutic developments in cystic fibrosis].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2017

[New therapies for cystic fibrosis targeting the CFTR gene or the CFTR protein].

Revue des maladies respiratoires·2016

X-chromosome inactivation in female patients with Fabry disease.

Clinical genetics·2015

Factors associated with humoral immune response to pandemic A/H1N1(v) 2009 influenza vaccine in cystic fibrosis.

Vaccine·2014

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Annales de genetique·2004

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Annales de genetique·2004

Large duplication 4q25-q34 with mild clinical effect.

Annales de genetique·2004

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Annales de genetique·2004

Partial trisomy 8q and partial monosomy 18p: a case report.

Annales de genetique·2004

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Annales de genetique·2004

In vitro and in vivo studies on the impact of the familial adenomatous polyposis heterogeneous mutation MUC20-S671C on colorectal carcinogenesis and progression.

Translational cancer research·2026

Double heterozygous germline pathogenic variants in patients referred to a tertiary cancer genetics clinic in Singapore.

Frontiers in oncology·2026

Correction: Integrative subtyping by bile acid metabolism identifies CLCA1/UGT2A3/ZG16 as markers of immune dysfunction and poor prognosis in colorectal cancer.

Frontiers in oncology·2026

Deconvolution of evolutionary architecture unmasks a high-risk, subclonal-rich subtype in treatment-naive small cell lung cancer.

Journal of thoracic disease·2026

Overexpression of TCF7L2 promotes the viability and migration of MHCC-97H human hepatocellular carcinoma cells by upregulating MT-ND4L.

Translational cancer research·2026

Metabolic reprogramming in diabetes and cancer: the role of PI3K/AKT/mTOR and beyond.

American journal of cancer research·2026

Related Experiment Videos

Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French

Related Concept Videos

Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.

Ground-based assessment of the bias and long-term stability of fourteen limb and occultation ozone profile data records.

[New therapeutic developments in cystic fibrosis].

[New therapies for cystic fibrosis targeting the CFTR gene or the CFTR protein].

X-chromosome inactivation in female patients with Fabry disease.

Factors associated with humoral immune response to pandemic A/H1N1(v) 2009 influenza vaccine in cystic fibrosis.

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Large duplication 4q25-q34 with mild clinical effect.

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Partial trisomy 8q and partial monosomy 18p: a case report.

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

In vitro and in vivo studies on the impact of the familial adenomatous polyposis heterogeneous mutation MUC20-S671C on colorectal carcinogenesis and progression.

Double heterozygous germline pathogenic variants in patients referred to a tertiary cancer genetics clinic in Singapore.

Correction: Integrative subtyping by bile acid metabolism identifies CLCA1/UGT2A3/ZG16 as markers of immune dysfunction and poor prognosis in colorectal cancer.

Deconvolution of evolutionary architecture unmasks a high-risk, subclonal-rich subtype in treatment-naive small cell lung cancer.

Overexpression of TCF7L2 promotes the viability and migration of MHCC-97H human hepatocellular carcinoma cells by upregulating MT-ND4L.

Metabolic reprogramming in diabetes and cancer: the role of PI3K/AKT/mTOR and beyond.

Related Experiment Videos

Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French...

Related Concept Videos

Related Articles

Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French