Gene defect in polycystic kidney disease

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.

Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation·2017

The IGSF1 deficiency syndrome: characteristics of male and female patients.

The Journal of clinical endocrinology and metabolism·2013

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.

Clinical genetics·2012

Genetic analysis of short children with apparent growth hormone insensitivity.

Hormone research in paediatrics·2012

Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

Clinical genetics·2010

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.

Clinical genetics·2010

Mixed bone marrow or mixed stem cell transplantation for prevention or treatment of lupus-like diseases in mice.

Experimental nephrology·2002

Segregation of experimental autoimmune glomerulonephritis as a complex genetic trait and exclusion of Col4a3 as a candidate gene.

Experimental nephrology·2002

Activation of peroxisome proliferator-activated receptor-gamma inhibits apoptosis induced by serum deprivation in LLC-PK1 cells.

Experimental nephrology·2002

Characterization of adenosine receptors in human kidney proximal tubule (HK-2) cells.

Experimental nephrology·2002

Altered renin synthesis and secretion in the kidneys of heterozygous mice with a null mutation in the TGF-beta(2) gene.

Experimental nephrology·2002

Induction of alpha-catenin, integrin alpha3, integrin beta6, and PDGF-B by 2,8-dihydroxyadenine crystals in cultured kidney epithelial cells.

Experimental nephrology·2002

Intracavitary electrocardiography for 1‑Fr epicutaneous‑cava catheter tip location in neonates: 6‑Year retrospective study.

The journal of vascular access·2026

CNN-stylized dual-path CNN-Transformer for fetal head and pubic symphysis segmentation in intrapartum ultrasound.

Frontiers in physiology·2026

Survival and Favorable Neurological Outcome Following Home Delivery at 22 Weeks of Gestation: A Case Report.

Cureus·2026

Diagnosis of Pituitary Stalk Interruption Syndrome in a Newborn Presenting With Recurrent Hypoglycemia: A Rare Case Report.

Cureus·2026

Diagnostic Accuracy of Hepatic Subcapsular Flow on Color Doppler Ultrasonography and Preoperative Liver Biopsy for the Diagnosis of Biliary Atresia in Neonatal Cholestasis: A Pilot Diagnostic Accuracy Study.

Cureus·2026

Age-Adjusted AFP Interpretation in Neonatal Sacrococcygeal Teratoma: Why Adult Reference Ranges May Mislead.

Clinical case reports·2026

Related Experiment Videos

Gene defect in polycystic kidney disease

Related Concept Videos

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.

The IGSF1 deficiency syndrome: characteristics of male and female patients.

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.

Genetic analysis of short children with apparent growth hormone insensitivity.

Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.

Mixed bone marrow or mixed stem cell transplantation for prevention or treatment of lupus-like diseases in mice.

Segregation of experimental autoimmune glomerulonephritis as a complex genetic trait and exclusion of Col4a3 as a candidate gene.

Activation of peroxisome proliferator-activated receptor-gamma inhibits apoptosis induced by serum deprivation in LLC-PK1 cells.

Characterization of adenosine receptors in human kidney proximal tubule (HK-2) cells.

Altered renin synthesis and secretion in the kidneys of heterozygous mice with a null mutation in the TGF-beta(2) gene.

Induction of alpha-catenin, integrin alpha3, integrin beta6, and PDGF-B by 2,8-dihydroxyadenine crystals in cultured kidney epithelial cells.

Intracavitary electrocardiography for 1‑Fr epicutaneous‑cava catheter tip location in neonates: 6‑Year retrospective study.

CNN-stylized dual-path CNN-Transformer for fetal head and pubic symphysis segmentation in intrapartum ultrasound.

Survival and Favorable Neurological Outcome Following Home Delivery at 22 Weeks of Gestation: A Case Report.

Diagnosis of Pituitary Stalk Interruption Syndrome in a Newborn Presenting With Recurrent Hypoglycemia: A Rare Case Report.

Diagnostic Accuracy of Hepatic Subcapsular Flow on Color Doppler Ultrasonography and Preoperative Liver Biopsy for the Diagnosis of Biliary Atresia in Neonatal Cholestasis: A Pilot Diagnostic Accuracy Study.

Age-Adjusted AFP Interpretation in Neonatal Sacrococcygeal Teratoma: Why Adult Reference Ranges May Mislead.

Related Experiment Videos

Gene defect in polycystic kidney disease

Related Concept Videos

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