Results 91 to 100 of about 5,209 (186)
Prenatal Diagnosis, Volume 45, Issue 9, Page 1139-1150, August 2025.ABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Kristína Valovičová +4 more
wiley +1 more source
The Anatomical Record, Volume 308, Issue 7, Page 1944-1971, July 2025.Abstract Craniosynostosis is a common yet complex birth defect, characterized by premature fusion of the cranial sutures that can be syndromic or nonsyndromic. With over 180 syndromic associations, reaching genetic diagnoses and understanding variations in underlying cellular mechanisms remains a challenge.
Heather A. Richbourg +9 more
wiley +1 more source
The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes – a literature review and three case reports [PDF]
, 2016 Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes.
Jakovljević, A. +3 more
core +3 more sources
Interpretative phenomenological analysis and genetic counseling
Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.Abstract The role of qualitative methods in healthcare research has gained acceptance over the last 30 years, and there are now a number of well‐established approaches available offering a diversity of aims, procedures, and epistemological emphases. This paper focuses on one such approach, Interpretative Phenomenological Analysis (IPA), to provide a ...
Rachel A. Starr, Jonathan A. Smith
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
core
GERMLINE GAIN-OF-FUNCTION MUTATIONS of ALK DISRUPT CENTRAL NERVOUS SYSTEM DEVELOPMENT [PDF]
, 2011 International audienceNeuroblastoma (NB) is a frequent embryonal tumour of sympathetic ganglia and adrenals with extremely variable outcome. Recently, somatic amplification and gain-of-function mutations of the anaplastic lymphoma receptor tyrosine ...
Amiel, Jeanne +18 more
core +4 more sources
Orthodontics &Craniofacial Research, Volume 28, Issue 3, Page 555-563, June 2025.ABSTRACT Objective To compare head posture and upper spine morphology in hypermobile Ehlers‐Danlos syndrome (hEDS) patients with healthy controls with neutral occlusion. Materials and Methods The study consisted of 27 hEDS patients (23 females, 4 males, mean age 36.41 ± 11.35) and 39 healthy controls (28 females, 11 males, mean age 31.85 ± 11.35) with ...
Ashkan Jasemi +2 more
wiley +1 more source
Brazilian Oral Research, 2004 Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface ...
Marco Antônio Portela Albuquerque +1 more
doaj +1 more source
Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering [PDF]
, 2014 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108634/1/bdrc21075 ...
Achilleos +51 more
core +1 more source
FGF2 promotes Msx2 stimulated PC‐1 expression via Frs2/MAPK signaling [PDF]
, 2010 PC‐1 is an enzymatic generator of pyrophosphate and a critical regulator of tissue mineralization. We previously showed that fibroblast growth factor‐2 (FGF2) specifically induces PC‐1 expression in calvarial pre‐osteoblasts and that this occurs via a ...
Hatch, Nan E. +4 more
core +1 more source