Results 101 to 110 of about 1,327,945 (260)

Combinatorial Roles of Heparan Sulfate Proteoglycans and Heparan Sulfates in Caenorhabditis elegans Neural Development [PDF]

, 2014
Heparan sulfate proteoglycans (HSPGs) play critical roles in the development and adult physiology of all metazoan organisms. Most of the known molecular interactions of HSPGs are attributed to the structurally highly complex heparan sulfate (HS) glycans.
AN Minniti, B Casu, BD Ackley, BT Kim, C Desai, C Rhiner, CL Merry, DR Ferro, H Habuchi, H Kitagawa, H Kitagawa, H Kitagawa, H Morio, HE Bulow, HE Bulow, HE Bulow, J Aikawa, J Li, JP Li, JR Bishop, JY Sze, K Holmborn, KL Kramer, M Zako, ML Hudson, MM Shah, MM Shah, Nikos K. Karamanos, NW Shworak, RA Townley, S Brenner, S Tumova, SG Clark, SL Bullock, T Kinnunen, T Kinnunen, T Lind, Tarja K. Kinnunen, TL Gumienny, TM Rogalski, TR Rudd, UM Polanska   +41 more
core   +3 more sources

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1362-1371, June 2026.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Efficacy of prenatal ultrasonography in diagnosing urogenital developmental anomalies in newborns. [PDF]

, 2014
BACKGROUND: Showing a prevalence rate of 0.5-0.8%, urogenital malformations discovered in newborns is regarded relatively common. The aim of this study is to examine the efficacy of ultrasound diagnostics in detecting developmental disorders in the ...
A Ahmadzadeh, AM Becker, Artur Beke, Barbara Pete, DO Anumba, Eva Gorbe, Fanni Rebeka Eros, GM Fadda, H Grandjean, IA Abdelazim, Istvan Szabo, J Mandell, JA Pates, Janos Rigo, JP Crane, JP VanDorsten, K Ismaili, LL Thornburg, PK Rao, PM Cuckow, Q Zhou, Q Zhou, RM Patten, S Levi, S Levi, S Sairam, V Fasolato   +26 more
core   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Case report: Seminal vesicle cyst with ipsilateral renal agenesis [PDF]

, 2010
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn Skoða/Opna(view/open)We describe a case of right seminal vesicle cyst with ipsilateral renal agenesis in a 25 year old male.
Eiríkur Jónsson, Hildur Einarsdóttir, Margrét Brands Viktorsdóttir   +2 more
core  

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association [PDF]

, 2014
Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US.
Bartels, Enrika, Bogdanovic, Radovan, Brosens, Erwin, de Blaauw, Ivo, de Klein, Annelies, Draaken, Markus, Dworschak, Gabriel C., Esposito, Franca, Gee, Heon Yung, Grasshoff-Derr, Sabine, Heij, Hugo, Herrmann, Bernhard G., Hildebrandt, Friedhelm, Hilger, Alina C., Holland-Cunz, Stefan, Hwang, Daw-Yang, Kohl, Stefan, Ludwig, Michael, Marcelis, Carlo L.M., Matassa, Danilo S., Mäzheuser, Stefanie, Natarajan, Sivakumar, Nöhen, Markus M., Pennimpede, Tracie, Reutter, Heiko M., Saisawat, Pawaree, Schmidt, Dominik, Schmiedeke, Eberhard, Solomon, Benjamin D., Sperry, Ethan, Stajić, Nataša, Tasic, Velibor, Tibboel, Dick, van Rooij, Iris A.L.M., Wijers, Charlotte H.W.   +34 more
core   +2 more sources

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

MURCS (Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia): a rare cause of primary amenorrhoea

Oxford Medical Case Reports, 2016
The agenesis of the Müllerian duct is the second most common cause of primary amenorrhoea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities.
Sunil Kumar, Shruti Sharma
semanticscholar   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Formin isoforms are differentially expressed in the mouse embryo and are required for normal expression of fgf-4 and shh in the limb bud [PDF]

, 1995
Mice homozygous for the recessive limb deformity (ld) mutation display both limb and renal defects. The limb defects, oligodactyly and syndactyly, have been traced to improper differentiation of the apical ectodermal ridge (AER) and shortening of the ...
Chan, David C., Leder, Philip, Wynshaw-Boris, Anthony   +2 more
core