Results 61 to 70 of about 6,628 (168)

Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome. [PDF]

PLoS ONE, 2016
Prader-Willi syndrome (PWS) is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF) and leptin are reciprocally involved in energy homeostasis.To analyze the role of BDNF and leptin in satiety in genetic subtypes of PWS ...
Marta Bueno, Susanna Esteba-Castillo, Ramon Novell, Olga Giménez-Palop, Ramon Coronas, Elisabeth Gabau, Raquel Corripio, Neus Baena, Marina Viñas-Jornet, Míriam Guitart, David Torrents-Rodas, Joan Deus, Jesús Pujol, Mercedes Rigla, Assumpta Caixàs   +14 more
doaj   +1 more source

Frequent occurrence of uniparental disomy in colorectal cancer [PDF]

Carcinogenesis, 2007
We used SNP arrays to identify and characterize genomic alterations associated with colorectal cancer (CRC). Laser microdissected cancer cells from 15 adenocarinomas were investigated by Affymetrix Mapping 10K SNP arrays. Analysis of the data extracted from the SNP arrays revealed multiple regions with copy number alterations and loss of heterozygosity
Andersen, Claus Lindbjerg; id_orcid 0000-0002-7406-2103, Wiuf, Carsten, Kruhøffer, Mogens, Korsgaard, Marianne, Laurberg, Søren, Ørntoft, Torben Falck   +5 more
openaire   +3 more sources

Diagnostic Challenges in Choroid Plexus Tumours

Neuropathology and Applied Neurobiology, Volume 52, Issue 4, August 2026.
In this review, we summarise the diagnostic spectrum of choroid plexus tumours, highlight key age‐dependent differential diagnoses across infants, children/adolescents and adults, and outline how histopathology, immunohistochemistry and molecular profiling support accurate tumour classification.
Christian Thomas, Martin Hasselblatt
wiley   +1 more source

Novel Mutations in the MC2R Gene in a Patient With Familial Glucocorticoid Deficiency (FGD): A Case Report and Functional Study

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Compound heterozygous MC2R variants were identified and shown to reduce receptor expression and ACTH‐induced cAMP signaling, confirming their pathogenic role in familial glucocorticoid deficiency. ABSTRACT Purpose Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by resistance to adrenocorticotropic hormone ...
Ni Zhen, Yonghui Tao, Chuanyin Li, Wenli Lu   +3 more
wiley   +1 more source

Uniparental Disomies in Unselected Populations [PDF]

The American Journal of Human Genetics, 1998
The author is most grateful to Mrs. G. Chapuis, Dr. A. Bottani and J. Ashkenas (Ph.D) for their diligent help in preparing the manuscript.
openaire   +1 more source

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, Volume 209, Issue 1, Page 75-83, July 2026.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Population‐Based Identification of Clonal Hematopoiesis Using Peripheral Blood Whole‐Genome Sequencing in Japan

Cancer Science, Volume 117, Issue 7, Page 1996-2006, July 2026.
Whole‐genome sequencing of ~50,000 individuals from the Tohoku Medical Megabank (TMM) cohort defines the prevalence, mutational landscape, and age dependency of clonal hematopoiesis in the Japanese population, demonstrating overall concordance with clonal hematopoiesis detected in cancer patients.
SungGi Chi, Ikuko N. Motoike, Takao Fujisawa, Yumi Yamaguchi‐Kabata, Takahiro Nobukuni, Kengo Kinoshita, Yoshiaki Nakamura, Hideaki Bando, Takayuki Yoshino, Kinuko Ohneda, Katsuya Tsuchihara, Yosuke Minami, Riu Yamashita   +12 more
wiley   +1 more source

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy

Case Reports in Genetics, 2014
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.
Shaochun Bai, Anthony Lozada, Marilyn C. Jones, Harry C. Dietz, Melissa Dempsey, Soma Das   +5 more
doaj   +1 more source

Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8.
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Meng-Shan Lee, Wayseen Wang   +8 more
doaj   +1 more source

Spectrum of Hypogonadism and Its Management in Adolescents With Prader‐Willi Syndrome: A Retrospective Cohort Study Over 35 Years

Clinical Endocrinology, Volume 105, Issue 1, Page 51-59, July 2026.
ABSTRACT Context Adult data indicate that hypogonadism is underdiagnosed and undertreated in Prader‐Willi Syndrome (PWS). Objectives We aimed to describe the spectrum of pubertal development, and the diagnosis and treatment of hypogonadism in paediatric/adolescent patients with PWS. Design/Patients A retrospective cohort study of patients with PWS aged
Helen Nguyen, Geoffrey Ambler, Yoon Hi Cho   +2 more
wiley   +1 more source