Results 61 to 70 of about 6,163 (220)
Jaffe Lichtenstein Type Polyostotic Fibrous Dysplasia with Unilateral Absent Testis [PDF]
Journal of Clinical and Diagnostic Research, 2018 Fibrous dysplasias are developmental bone disorders in which the medullary cavity is replaced by fibrous tissue. It can be monostotic involving a single bone or polyostotic involving multiple bones.
Anand Ramakrishnan +3 more
doaj +1 more source
Denosumab treatment for fibrous dysplasia [PDF]
, 2012 Fibrous dysplasia (FD) is a skeletal disease caused by somatic activating mutations of the cyclic adenosine monophosphate (cAMP)‐regulating protein, α‐subunit of the Gs stimulatory protein (G s α).
Albright +41 more
core +1 more source
A head start: The relationship of placental factors to craniofacial and brain development
Developmental Dynamics, Volume 254, Issue 10, Page 1096-1114, October 2025.Abstract In recent years, the importance of placental function for fetal neurodevelopment has become increasingly studied. This field, known as neuroplacentology, has greatly expanded possible etiologies of neurodevelopmental disorders by exploring the influence of placental function on brain development.
Annemarie Jenna Carver +2 more
wiley +1 more source
A rare case of McCune Albright syndrome [PDF]
, 2019 McCune Albright syndrome is characterized by the clinical triad of precocious puberty, polyostotic fibrous dysplasia, and café-au-lait pigmentation. Authors reported the case of a 6 years old girl presenting with vaginal bleeding.
Banga, Siftie-Kaur, Patil, Pooja
core +2 more sources
Categories of Cutaneous Mosaicism
JEADV Clinical Practice, Volume 4, Issue 3, Page 652-658, August 2025.ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
Rudolf Happle
wiley +1 more source
Journal of Medical Case Reports, 2012 Introduction McCune-Albright syndrome is a complex inborn disorder due to early embryonal postzygotic somatic activating mutations in the GNAS1 gene. The phenotype is very heterogeneous and includes polyostotic fibrous dysplasia, typically involving the ...
Classen Carl +4 more
doaj +1 more source
Clinical Classification of Mosaicism
JEADV Clinical Practice, Volume 4, Issue 3, Page 646-651, August 2025.Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti +3 more
wiley +1 more source
Journal of Cellular and Molecular Medicine, Volume 29, Issue 16, August 2025.ABSTRACT The Hedgehog (Hh) signalling pathway serves as a fundamental regulator in bone development and homeostasis, translating extracellular signals into precise transcriptional programmes that govern osteogenic differentiation and bone remodelling.
Rohey Njie +10 more
wiley +1 more source
A Dominant Mutation in Gαs‐Protein Increases Hair Pigmentation
Pigment Cell &Melanoma Research, Volume 38, Issue 3, May 2025.ABSTRACT We have identified a chemically induced mouse mutation which increases the eumelanic hair pigmentation. We identify a coding mutation, A3533G, resulting in an amino acid substitution Y1133C, in the Gnas gene encoding the Gαs subunit of the tripartite G‐protein, consistent with an activation of signalling via MC1R.
Philip S. Goff +8 more
wiley +1 more source
The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]
, 2020 Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J +3 more
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