Results 111 to 120 of about 3,912 (211)

Whole-Genome Sequencing of Three Native Cattle Breeds Originating From the Northernmost Cattle Farming Regions [PDF]

, 2019
article ...
Innokentyi Ammosov, Juha Kantanen, Kisun Pokharel, Melak Weldenegodguad, Melak Weldenegodguad, Ruslan Popov, Yao Ming, Zoya Ivanova   +7 more
core   +4 more sources

Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies

Developmental Medicine &Child Neurology, Volume 67, Issue 4, Page 463-474, April 2025.
This original article is commented by Fogel on pages 422–423 of this issue. Abstract Aim To evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling. Method A retrospective, multicentre chart review was conducted on fetuses who underwent brain MRI because of ...
Stephanie Libzon, Michal Gafner, Dorit Lev, Nilly Waiserberg, Liat Gindes, Zvi Leibovitz, Liat Ben‐Sira, Tally Lerman‐Sagie   +7 more
wiley   +1 more source

Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era. [PDF]

, 2019
The horse reference genome from the Thoroughbred mare Twilight has been available for a decade and, together with advances in genomics technologies, has led to unparalleled developments in equine genomics.
Bellone, R, Finno, Carrie, Petersen, J, Raudsepp, T   +3 more
core   +2 more sources

A 1-Mb BAC/PAC-Based Physical Map of the Autosomal Recessive Polycystic Kidney Disease Gene (PKHD1) Region on Chromosome 6

Genomics, 1999
The PKHD1 (polycystic kidney and hepatic disease 1) gene responsible for autosomal recessive polycystic kidney disease has been mapped to 6p21.1-p12 to an approximately 1-cM interval flanked by the markers D6S1714/D6S243 and D6S1024. We have developed a sequence-ready BAC/PAC-based contig map of this region as the next step for the positional cloning ...
J H, Park, M P, Dixit, L F, Onuchic, G, Wu, A N, Goncharuk, S, Kneitz, L B, Santarina, T, Hayashi, E D, Avner, L, Guay-Woodford, K, Zerres, G G, Germino, S, Somlo   +12 more
openaire   +2 more sources

Kibra knockdown inhibits the aberrant Hippo pathway, suppresses renal cyst formation and ameliorates renal fibrosis in nphp1KO mice

Clinical and Translational Medicine, Volume 15, Issue 3, March 2025.
• Canonical Hippo pathway activated in nphp1‐deficient disease models and patients. • Kibra was a key upstream molecule in regulating the activation of canonical Hippo pathway in nphp1‐deficient disease models and patients and closely related to renal cyst formation and fibrosis in nphp1KO mice.
Yichen Yang, Zhihe Xue, Jiayong Lai, Jinglan Zhang, Changmiao Pang, Jinglin Zhong, Zhanpeng Kuang, Baojuan Zou, Yaqing Liu, Liangzhong Sun   +9 more
wiley   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

The role of next generation sequencing in the differential diagnosis of caroli’s syndrome

Balkan Journal of Medical Genetics, 2018
We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis.
Smolović B, Muhović D, Hodžić A, Bergant G, Peterlin B   +4 more
doaj   +1 more source

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression [PDF]

, 2017
Uromodulin (UMOD) mutations are responsible for three autosomal dominant tubulo-interstitial nephropathies including medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease.
Attanasio, Massimo, Baasner, Anne, Beck, Bodo B., Boehm, Christoph W. A., Boehnlein, Joana M., Fischer, Andreas, Hildebrandt, Friedhelm, Hopfer, Helmut, Hoppe, Bernd, Pasch, Andreas, Polishchuk, Roman S., Rampoldi, Luca, Sayer, John A., Steffens, Sarah, Wolf, Matthias T. F., Zaucke, Frank   +15 more
core  

Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.

PLoS ONE, 2020
Cystic kidney diseases are a very heterogeneous group of chronic kidney diseases. The diagnosis is usually based on clinical and ultrasound characteristics and the final diagnosis is often difficult to be made.
Lena Obeidova, Tomas Seeman, Filip Fencl, Kveta Blahova, Jan Hojny, Veronika Elisakova, Jana Reiterova, Jitka Stekrova   +7 more
doaj   +1 more source

Block-based Bayesian epistasis association mapping with application to WTCCC type 1 diabetes data [PDF]

, 2014
Interactions among multiple genes across the genome may contribute to the risks of many complex human diseases. Whole-genome single nucleotide polymorphisms (SNPs) data collected for many thousands of SNP markers from thousands of individuals under the ...
Liu, Jun, Zhang, Jing, Zhang, Yu
core   +1 more source