Results 261 to 270 of about 6,406,057 (346)

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio   +13 more
wiley   +1 more source

GPR37 Activation Alleviates Bone Cancer Pain via the Inhibition of Osteoclastogenesis and Neuronal Hyperexcitability. [PDF]

open access: yesAdv Sci (Weinh)
Wang K   +10 more
europepmc   +1 more source

Dentofacial Malocclusion in Neurofibromatosis 1 in Finland

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold   +6 more
wiley   +1 more source

Morphine and morphine-6-glucuronide plasma concentrations and effect in cancer pain

open access: bronze, 1996
Clara C. Faura   +4 more
openalex   +1 more source

Cancer Pain

open access: yes, 2019
Arūnas, Ščiupokas,   +2 more
openaire   +3 more sources

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong   +16 more
wiley   +1 more source

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