Results 31 to 40 of about 1,206,149 (284)

A global disorder of imprinting in the human female germ line [PDF]

, 2002
Imprinted genes are expressed differently depending on whether they are carried by a chromosome of maternal or paternal origin. Correct imprinting is established by germline-specific modifications; failure of this process underlies several inherited ...
A Kerjean, BE Hayward, BE Hayward, BE Hayward, Bruce E. Hayward, D Bourc’his, David T. Bonthron, Eamonn Sheridan, Hannah Judson, J Liu, J Liu, JS Sutcliffe, K Buiting, L Strain, M Kamiya, MN Helwani, MP Lee, NJ Smilinich, O El-Maarri, R Shemer, RA Fisher, RJ Gardner, S Engemann, SJ Clark, SK Murphy, T Kajii, T Kaneko-Ishino, T Ohta, W Reik, W Reik, YB Moglabey   +30 more
core   +1 more source

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population

Human Genomics, 2006
Recessively inherited phenotypes are frequent in the Palestinian population, as the result of a historical tradition of marriages within extended kindreds, particularly in isolated villages. In order to characterise the genetics of inherited hearing loss
Walsh Tom, Rayan Amal, Sa'ed Judeh, Shahin Hashem, Shepshelovich Jeanne, Lee Ming K, Hirschberg Koret, Tekin Mustafa, Salhab Wa'el, Avraham Karen B, King Mary-Claire, Kanaan Moien   +11 more
doaj   +1 more source

Mathematics discovered, invented, and inherited [PDF]

, 2013
The classical platonist/formalist dilemma in philosophy of mathematics can be expressed in lay terms as a deceptively naive question: is new mathematics discovered or invented?
Borovik, Alexandre
core  

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

Inherited genetic risk in stillbirth: A shared genomic segments analysis of high-risk pedigrees

HGG Advances
Summary: Stillbirth is a devastating adverse pregnancy outcome affecting 2 million pregnancies worldwide. Although an etiology may be found in some stillbirths, one-third remain unexplained.
Tsegaselassie Workalemahu, Michael J. Madsen, Sarah Lopez, Jessica M. Page, Nathan R. Blue, Cecile Avery, Rob Sargent, Zhe Yu, Emily Guinto, D. Ware Branch, Susannah Leisher, Lynn B. Jorde, Aaron Quinlan, Hilary Coon, Michael W. Varner, Claire T. Roberts, Deborah W. Neklason, Nicola J. Camp, Robert M. Silver   +18 more
doaj   +1 more source

The effect of a strict breeding strategy on overall growth and the prevalence of inherited disorders in the double-muscled Belgian Blue beef breed [PDF]

, 2005
Muscular conformation is the main breeding goal in the double-muscled (I)M) Belgian Blue beef breed (BBB). In recent years the muscularity has improved enormously, though at the same time the growth rate has decreased and the prevalence of a number of ...
Coopman, Frank, Dewulf, Jeroen, Van Zeveren, Alex   +2 more
core  

Treatment Decision‐Making Roles and Preferences Among Adolescents and Young Adults With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Decision‐making (DM) dynamics between adolescents and young adults (AYAs) with cancer, parents, and oncologists remain underexplored in diverse populations. We examined cancer treatment DM preferences among an ethnically and socioeconomically diverse group of AYAs and their parents.
Amanda M. Gutierrez, Jill O. Robinson, Wendy A. Allen‐Rhoades, Hadley S. Smith, Isabel Canfield, Rebecca L. Hsu, Sarah R. Scollon, Lauren R. Desrosiers‐Battu, Nicole M. Schneider, Frank Y. Lin, Donald Williams Parsons, Sharon E. Plon, Mary A. Majumder, Janet Malek, Amy L. McGuire   +14 more
wiley   +1 more source

ANKRD26 Gene Mutation and Thrombocytopenia—Is the Risk of Malignancy Dependent on the Mutation Variant?

Hematology Reports
Background and Clinical Significance: Inherited thrombocytopenia (IT) is a heterogeneous group of disorders caused by mutations in over 45 genes. Among these, ANKRD26-related thrombocytopenia (ANKRD26-RT) accounts for a notable subset and is associated ...
Eirik B. Tjønnfjord, Kristian Tveten, Signe Spetalen, Geir E. Tjønnfjord   +3 more
doaj   +1 more source

A new inherited character in man [PDF]

, 1940
Observations on more than 280 human subjects show the existence of two fairly distinct classes with respect to the ability to turn up the lateral edges of the tongue.
Sturtevant, A. H.
core  

Parent Quality of Life at Two Years Following Their Child's Completion of Acute Lymphoblastic Leukemia Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Parents of children treated for acute lymphoblastic leukemia (ALL) often experience significant caregiver burden and disruption to their well‐being. While parent quality of life (QoL) during treatment is well characterized, little is known about outcomes during early survivorship.
Sara Dal Pra, Maria McCarthy, Michael Takagi, Cinzia De Luca   +3 more
wiley   +1 more source