Results 191 to 200 of about 758,852 (295)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Disseminated cutaneous sarcoidosis triggered by eyebrow tattoo: a case report highlighting lesions beyond tattooed sites. [PDF]

Oxf Med Case Reports
Saeid L, Al-Janabi MAH, Hassan F.
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Adipocyte-driven STAT3-ANGPT2-PTGIS axis promotes cutaneous metastasis in breast cancer and represents a targetable pathway. [PDF]

NPJ Precis Oncol
Luo CW, Ou-Yang F, Chang SJ, Wu CC, Chen YZ, Yang YT, Hsu MC, Moi SH, Hung YH, Chu WL, Li YL, Hung WC, Wu CC, Hou MF, Lin SY, Li WP, Pan MR.   +16 more
europepmc   +1 more source

CUTANEOUS AMOEBIASIS.

The Journal of the Egyptian Medical Association, 1966
openaire   +3 more sources

Amelanotic melanoma metastatic to the duodenum

Advances in Digestive Medicine, EarlyView.
Yu‐Hung Lin, I‐Hsun Lin
wiley   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Correction to: <i>In-vitro</i> assessment of cutaneous immune responses to <i>aedes</i> mosquito salivary gland extract and dengue virus in Cambodian individuals. [PDF]

Oxf Open Immunol
europepmc   +1 more source

A Systematic Review of Cutaneous Involvement in Metastatic Bone Sarcomas: Insights from 102 Reported Cases. [PDF]

Cancers (Basel)
Sideris N, Vakirlis E, Sotiriou E.
europepmc   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source