Dalia Pantel

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families

Lea Maria Merz, Caroline M. Kolvenbach, Chunyan Wang, Nils D. Mertens et autres

de, us, ae, sa, Égypte, mk (code pays fourni par la source)

Advanced CKD of Uncertain Etiology Among Children in Guatemala: Genetic and Clinical Characteristics

Ankana Daga, Ana Morales, Shirlee Shril, Elizabeth Benoit et autres

Chronic kidney disease (CKD) is increasingly being recognized as an important global public health problem [1]. 43% of children in the Pediatric Kidney Disease referral center in Guatemala have CKD of unknown etiology [2]. Recent studies have shown that high chronic kidney …

us, es, gt, de (code pays fourni par la source)

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

Ronen Schneider, Shirlee Shril, Florian Buerger, Konstantin Deutsch et autres

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic

us, pk, de, pl, il, ae, Égypte, sa (code pays fourni par la source)

Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families

Dalia Pantel, Nils D. Mertens, Ronen Schneider, Selina Hölzel et autres

us, de, sa (code pays fourni par la source)

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

Caroline M. Kolvenbach, Bixia Zheng, Lea M. Merz, Nils D. Mertens et autres

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of chronic kidney disease that manifests in children. To date ~23 different monogenic causes have been implicated in isolated forms of human CAKUT, but the vast majority remains …

us, de, cn, Nigéria, fj (code pays fourni par la source)

Copy Number Variation Analysis in 138 Families With Steroid-Resistant Nephrotic Syndrome Identifies Homozygous Causal Deletions in PLCE1 and NPHS2 in Two Families

Dalia Pantel, Nils D. Mertens, Ronen Schneider, Jameela A. Kari et autres

Background: Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of end-stage renal disease in children and adults under the age of 20 years. Previously, we were able to detect by whole-exome sequencing (WES) a known monogenic cause of SRNS in …

us, de, sa, in (code pays fourni par la source)

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

Chunyan Wang, Steve Seltzsam, Bixia Zheng, Chen‐Han Wilfred Wu et autres

Spina bifida (SB) is the second most common nonlethal congenital malformation. The existence of monogenic SB mouse models and human monogenic syndromes with SB features indicate that human SB may be caused by monogenic genes. We hypothesized that whole exome sequencing (WES) …

us, cn, de, sa, ae, mk (code pays fourni par la source)

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

Steve Seltzsam, Chunyan Wang, Bixia Zheng, Nina Mann et autres

us, cn, de, mk, ae, sa, Égypte (code pays fourni par la source)

Whole-Exome Sequencing Identifies Likely Deleterious Variants in 50 Families with Spina Bifida

Chunyan Wang, Steve Seltzsam, Bixia Zheng, Chen‐Han Wilfred Wu et autres

Background: Spina bifida (SB) is the second most common nonlethal malformation (1/1,000 of live births). Several lines of evidence indicate that SB can be of monogenic origin: i) its congenital nature; ii) familial occurrence; iii) it being part of the phenotypic manifestation …

us, cn, sa, ae, lv (code pays fourni par la source)