Results 31 to 40 of about 1,873,067 (319)

Potter′s sequence

Journal of Clinical Neonatology, 2012
Potter's sequence is a rare fatal disorder that occurs in sporadic and autosomal recessive forms with an incidence of 1 in 4000 births. Babies born with this condition are either still born or die very early within the neonatal period. We report a case of Potter's sequence with the typical physical findings and histological findings.
Shastry, Srikanth M., Kolte, Sachin S., Sanagapati, Panduranga R.   +2 more
openaire   +3 more sources

Heparin sequencing [PDF]

Glycobiology, 2002
Heparin is a highly sulfated glycosaminoglycan widely used as an anticoagulant. Modifications in its relatively uniform structure appear to be key to its recognition and modulation of serine proteases, growth factors, chemokines, and extracellular proteins, as has been most clearly demonstrated in the antithrombin binding site.
Stringer, Sally E., Kandola, Balbant S., Pye, David A., Gallagher, John T.   +3 more
openaire   +2 more sources

Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia

Case Reports in Genetics
Primary ciliary dyskinesia (PCD) is a rare, inherited disease resulting from abnormal structure and/or function of cilia. To date, pathogenic variants in over 50 genes have been reported as causes of PCD.
Liora H. Feshbach, Morgan Similuk, Laura M. Amendola, Katie L. Lewis, Magdalena A. Walkiewicz, Mari Tokita, Rajarshi Ghosh, Andrew Lipton   +7 more
doaj   +1 more source

Imaging of High‐Risk Neuroblastoma: Recommendations From SIOPEN Radiology and Nuclear Medicine Specialty Committees

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Neuroblastoma is the most common extracranial solid tumor in early childhood. Its clinical behavior is highly variable, ranging from spontaneous regression to fatal outcome despite intensive treatment. The International Society of Pediatric Oncology Europe Neuroblastoma Group (SIOPEN) Radiology and Nuclear Medicine Specialty Committees ...
Annemieke Littooij, Catia Olianti, Herve Brisse, Pier Luigi Di Paolo, Maria Garganese, Tepas Kapadia, Jurgen Schaefer, Hugh Wallace, Simon Wan, Bart de Keizer, Irmina Sefic Pasic, Julian Rogasch   +11 more
wiley   +1 more source

Carcinomas and Carcinoid Tumors of the Lungs and Bronchi in Children and Adolescents: The EXPeRT Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary lung carcinomas and bronchial carcinoid tumors (BC) are very rare malignancies in childhood. While typical BC and mucoepidermoid carcinomas are mostly low‐grade, localized tumors with a more favorable prognosis than in adults, necessitating avoidance of overtreatment, adenocarcinomas of the lung are often diagnosed at advanced disease ...
Michael Abele, Calogero Virgone, Michaela Kuhlen, Sabine Irtan, Yves Reguerre, Malgorzata Krawczyk, Ewa Bien, Tal Ben‐Ami, Maja Cesen, Ricardo Lopez‐Almaraz, Andrea Ferrari, Gianni Bisogno, Dominik T. Schneider, Abbas Agaimy, Constantin Lapa, Hubert Ducou le Pointe, Rainer Claus, Catherine Daniel, Ines B. Brecht, Daniel Orbach   +19 more
wiley   +1 more source

Identifying predictive features of Clostridium difficile infection recurrence before, during, and after primary antibiotic treatment

Microbiome, 2017
Background Colonization by the pathogen Clostridium difficile often occurs in the background of a disrupted microbial community. Identifying specific organisms conferring resistance to invasion by C.
Sepideh Pakpour, Amit Bhanvadia, Roger Zhu, Abhimanyu Amarnani, Sean M. Gibbons, Thomas Gurry, Eric J. Alm, Laura A. Martello   +7 more
doaj   +1 more source

The sequence of sequencers: The history of sequencing DNA

Genomics, 2016
Determining the order of nucleic acid residues in biological samples is an integral component of a wide variety of research applications. Over the last fifty years large numbers of researchers have applied themselves to the production of techniques and technologies to facilitate this feat, sequencing DNA and RNA molecules. This time-scale has witnessed
Heather, JM, Chain, B
openaire   +3 more sources

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Pre-sequencing assessment of RNA-Seq library quality using real-time qPCR

BioTechniques
RNA sequencing (RNA-Seq) is an essential assay for studying transcriptome profiling. Ribosomal RNA (rRNA) comprises more than 80–90% of total cellular RNA; efficient removal is essential for accurately capturing transcriptomes, particularly to sequence ...
Kavya Kottapalli, Hsu Chao, Qi Jiang, Jimmonique Donelson, Nathanael Emerick, Sravya V Bhamidipati, Zeineen Momin, Tittu Mathew, Ziad M. Khan, Viktoriya Korchina, Marie-Claude Gingras, Donna Muzny, Richard Gibbs, Harsha Doddapaneni   +13 more
doaj   +1 more source

Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O‐Arab and Alpha‐Thalassemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O‐Arab with coinheritance of α‐thalassemia (αα/−α4.2; −α3.7/−α4.2), resulting in microcytic and hypochromic anemia ...
Elisângela de Souza Miranda Muynarsk, Amanda Cristina Meneguetti Berti, Bárbara Braga Vieira Marques, Victoria Simões Bernardo, Flaviene Felix Torres, Ingrid Souza Dias, Vanessa da Silveira Ramos de Castro, Gabriela Alves Bernardino, Danilo Grünig Humberto da Silva, Edis Belini‐Júnior   +9 more
wiley   +1 more source