Results 51 to 60 of about 4,207 (207)
Genome-wide search for strabismus susceptibility loci. [PDF]
, 2003 The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake +6 more
core +1 more source
Orthodontics &Craniofacial Research, EarlyView.ABSTRACT Objective Mandibular retrognathism (MR) is a skeletal malocclusion in which patients have a deficient mandibular length, resulting in a more posterior position of the mandible. We aimed to investigate the association between Single nucleotide polymorphisms (SNPs) in Fibroblast Growth Factor Receptor 2 (FGFR2) gene and MR in germans.
Caio Luiz Bitencourt Reis +9 more
wiley +1 more source
Crouzon′s syndrome: A review of literature and case report
Contemporary Clinical Dentistry, 2011 Crouzon′s syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder.
Vivek Padmanabhan +2 more
doaj +1 more source
Orbital causes of incomitant strabismus [PDF]
, 2015 Strabismus may result from abnormal innervation, structure, or function of the extraocular muscles. Abnormalities of the orbital bones or masses within the orbit may also cause strabismus due to indirect effects on the extraocular muscles.
Lueder, Gregg T
core +3 more sources
Mouse genetics identifies unique and overlapping functions of fibroblast growth factor receptors in keratinocytes [PDF]
, 2020 Fibroblast growth factors (FGFs) are key regulators of tissue development, homeostasis and repair, and abnormal FGF signalling is associated with various human diseases.
Ben-Yehuda Greenwald, Maya +9 more
core +2 more sources
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 728-732, March 2026.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +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
Crouzon syndrome: a social stigma [PDF]
BMJ Case Reports, 2012 Crouzon syndrome is a rare genetic disorder caused due to genetic mutations. It is characterised by partial hearing loss, dry eyes, strabismus and underdevelopment of the upper jaw with facial deformities and malocclusion. These facial deformities greatly affect the social and emotional development of the affected child.
Neelisha, Pandey +3 more
openaire +2 more sources
Child: Care, Health and Development, Volume 52, Issue 2, March 2026.ABSTRACT Background Hospital‐to‐home (H2H) transitions of children with medical complexity (CMC) are a multifaceted process with many challenges and obstacles, especially for parents. The ‘Jeroen Pit Huis’ (JPH) is a stand‐alone, innovative transitional care unit (TCU) that aims to improve the transition home.
Heleen N. Haspels +6 more
wiley +1 more source