Intronic variant in POU1F1 associated with canine pituitary dwarfism.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02259-2
Abstract: The anterior pituitary gland secretes several endocrine hormones, essential for growth, reproduction and other basic physiological functions. Abnormal development or function of the pituitary gland leads to isolated or combined pituitary hormone deficiency (CPHD). At… read more here.
Keywords: dwarfism; pou1f1 associated; intronic variant; pou1f1 ... See more keywords
Aggrecan, IL-1β, IL-6, and TNF-α profiles in the Articular Cartilage of Miniature Horses with Chondrodysplastic Dwarfism.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of equine veterinary science"
DOI: 10.1016/j.jevs.2021.103643
Abstract: Dwarfism is a skeletal disorder that causes abnormal growth. In Miniature horses, dwarfism can occur as chondrodysplastic dwarfism, an autosomal recessive disorder associated with five mutations (D1, D2, D3*, D4 and c.6465A > T variant)… read more here.
Keywords: miniature horses; dwarfism; chondrodysplastic dwarfism; articular cartilage ... See more keywords
The maid of the Bridal Room by Andrea Mantegna (1431–1506) shows evidence of hypopituitary dwarfism and neurofibromatosis type-1
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.07.029
Abstract: We read with interest the letter of Benedicenti and Superti-Furga “Themultiple faces of artwork diagnoses” [1], which challenges our previous diagnosis of neurofibromatosis type-1 and hypo-pituitary dwarfism [2] in the maid depicted by Andrea Mantegna's… read more here.
Keywords: hypopituitary dwarfism; dwarfism; bridal room; neurofibromatosis type ... See more keywords
Dwarfism and insulin resistance in male offspring caused by α1-adrenergic antagonism during pregnancy
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Metabolism"
DOI: 10.1016/j.molmet.2017.06.016
Abstract: Objective Maternal and environmental factors control the epigenetic fetal programming of the embryo, thereby defining the susceptibility for metabolic or endocrine disorders in the offspring. Pharmacological interventions required as a consequence of gestational problems, e.g.… read more here.
Keywords: adrenergic antagonism; pregnancy; dwarfism; insulin resistance ... See more keywords
Mutational analysis of consanguineous families and their targeted therapy against dwarfism
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Biomolecular Structure and Dynamics"
DOI: 10.1080/07391102.2024.2307446
Abstract: Abstract Dwarfism is a medical term used to describe individuals with a height-vertex measurement that falls below two standard deviations (−2SD) or the third percentile for their gender and age. Normal development of growth is… read more here.
Keywords: genetics; consanguineous families; families targeted; analysis consanguineous ... See more keywords
Heterozygotes for ACAN dwarfism alleles in horses have reduced stature.
Sign Up to like & getrecommendations! Published in 2020 at "Animal genetics"
DOI: 10.1111/age.12921
Abstract: Homozygous and compound heterozygous Miniature horses for ACAN alleles D1, D2, D3* and D4 exhibit chondrodysplastic dwarfism (OMIA 001271-9796). In a previous study, the carrier rate for these four alleles, combined, was 26.2%. The purpose… read more here.
Keywords: dwarfism; dwarfism alleles; withers height; acan dwarfism ... See more keywords
Skeletal and Neurological Features of Seckel Syndrome and Microcephalic Osteodysplastic Primodrial Dwarfism – A Review of the Literature
Sign Up to like & getrecommendations! Published in 2020 at "Asian Journal of Psychiatry"
DOI: 10.11648/j.ajp.20200603.44
Abstract: Backround: Primordial dwarfism is a rare disease pattern that is notable due to its clinical appearance. The first description was made in 1960 and created the initial image of the "bird-like" face with severe growth… read more here.
Keywords: dwarfism; primordial dwarfism; review; microcephalic osteodysplastic ... See more keywords
Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
Sign Up to like & getrecommendations! Published in 2022 at "BMC Medical Genomics"
DOI: 10.1186/s12920-022-01226-8
Abstract: Background Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is an autosomal recessive condition encompassing a heterogeneous group of disorders characterized by symmetrical growth retardation leading to dwarfism, microcephaly, and a range of multiple medical complications… read more here.
Keywords: osteodysplastic primordial; dwarfism; mopd type; microcephalic osteodysplastic ... See more keywords
PCYT1A Missense Variant in Vizslas with Disproportionate Dwarfism
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13122354
Abstract: Disproportionate dwarfism phenotypes represent a heterogeneous subset of skeletal dysplasias and have been described in many species including humans and dogs. In this study, we investigated Vizsla dogs that were affected by disproportionate dwarfism that… read more here.
Keywords: disproportionate dwarfism; dwarfism; missense variant; pcyt1a missense ... See more keywords
Genomics of Dwarfism in Italian Local Chicken Breeds
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14030633
Abstract: The identification of the dwarf phenotype in chicken is based on body weight, height, and shank length, leaving the differentiation between dwarf and small breeds ambiguous. The aims of the present study were to characterize… read more here.
Keywords: dwarfism; chicken; chicken breeds; meri mug ... See more keywords
Survivorship and Complications of Total Hip Arthroplasty in Patients with Dwarfism
Sign Up to like & getrecommendations! Published in 2017 at "HIP International"
DOI: 10.5301/hipint.5000484
Abstract: Background Total hip arthroplasty (THA) is a common procedure used to treat bony hip deformities and skeletal dysplasia in dwarfism. These surgeries are often more difficult than conventional THA as they may involve malformed joints… read more here.
Keywords: patients dwarfism; dwarfism; hip; periprosthetic fractures ... See more keywords