Results 41 to 50 of about 464,487 (319)

Atypical Presentation of Pseudoxanthoma Elasticum in Two Siblings from North India

Acta Medica, 2020
Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder occurring due to metabolic defect in the liver and manifesting predominantly in the skin, eyes and arteries.
Sunayana Misra, Ravindra Kumar Saran
doaj   +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

Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: Genetic reclassification and correlation with clinical features [PDF]

, 2004
Background: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder predisposing to predominantly colorectal cancer (CRC) and endometrial cancer frequently due to germline mutations in DNA mismatch repair (MMR) genes, mainly ...
Gross, M., Lohse, P., Muders, M., Müller-Koch, Y., Daum, J., Mussack, T., Baretton, G., Kopp, R., Schiemann, Uwe, Holinski-Feder, E.   +9 more
core   +1 more source

Hereditary hemochromatosis

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2006
▪ Abstract  In recent years, the number of proteins implicated in iron homeostasis has increased dramatically, and genetic causes have apparently been identified for the major disorders associated with tissue iron overload. These dramatic steps forward have transformed the way we look at iron-related disorders, particularly hemochromatosis.
openaire   +4 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

WAO guideline for the management of hereditary angioedema

, 2012
Hereditary Angioedema (HAE) is a rare disease and for this reason proper diagnosis and appropriate therapy are often unknown or not available for physicians and other health care providers.
Ruby Pawankar, Richard Lockey, Magerl, Markus, Bowen, Tom, Lumry, William, Pawankar, Ruby, Craig, Timothy P., Craig, Timothy, Emel Aygören Pürsün, Anete Grumach, Bork, Konrad, Ritchie, Bruce, Katelaris, Constance H. (R12307), Bruce Zuraw, Alexander Nast, Farkas, Henrietta, Farkas, Henriette, Longhurst, Hilary, Martinez-Saguer, Immaculada, Nast, Alexander, Marcus Maurer, Henriette Farkas, Markus Magerl, Lockey, Richard, William Lumry, Tom Bowen, Zuraw, Bruce, Boysen, Henrik B., Martinez Saguer, Inmaculada, Konrad Bork, Grumach, Anete, Katelaris, Constance H., Hilary Longhurst, Aygören-Pürsün, Emel, Maurer, Marcus, Immaculada Martinez-Saguer, Bruce Ritchie, Henrik Boysen, Constance H. Katelaris, Timothy Craig   +39 more
core   +1 more source

Hereditary colorectal cancer : assessment of genotype-phenotype correlations and analysis of rare susceptibility genes in familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) [PDF]

, 2008
Each year 3500 people in Switzerland are diagnosed with colorectal cancer. Approximately 20 percent of all affected patients have two or more first or second-degree relatives with colorectal cancer (at-risk family members). About five percent of these
Necker, Judith
core   +1 more source

Hereditary Eye Diseases in German Shepherd Dog

Folia Veterinaria, 2022
Hereditary eye diseases occur to varying degrees in all dog breeds. Individual purebred breeds have specific predispositions to various eye disorders.
Zubrický P., Trbolová A.
doaj   +1 more source

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams   +8 more
wiley   +1 more source

The Gabriel-Roiter measure for representation-finite hereditary algebras

, 2006
Chen B. The Gabriel-Roiter measure for representation-finite hereditary algebras.
Chen, Bo
core   +1 more source