Results 91 to 100 of about 22,168 (264)
Thumb Polydactyly with a Floating Ulnar Thumb [PDF]
, 2013 Thumb polydactyly is reported to be the most common congenital anomaly of the hand in Japan. The floating type is not particularly rare, accounting for 0.9 to 15% of all cases of thumb polydactyly.
Hasegawa, Kenjiro +2 more
core +1 more source
Transfusion Medicine, EarlyView.Abstract Objectives We aimed to optimise the infant ABO typing workflow by evaluating the performance of the ORTHO VISION analyser (VISION; QuidelOrtho, San Diego, CA, USA) and establishing a targeted manual reflex protocol. Background The application of automated analysers in infants poses challenges due to weak antigen and antibody expression ...
Eunhui Ji +4 more
wiley +1 more source
Case Reports in Pulmonology, 2015 Short-rib polydactyly syndrome is an autosomal recessively inherited lethal skeletal dysplasia. The syndrome is characterized by marked narrow fetal thorax, short extremities, micromelia, cleft palate/lip, polydactyly, cardiac and renal abnormalities ...
Nihat Demir +5 more
doaj +1 more source
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, 2020 Ariana Kariminejad +10 more
openalex +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
The chick limb: embryology, genetics and teratology [PDF]
, 2018 MD is supported by the BBSRC through a BBSRC Institute Strategic Grant, MT is a Wellcome Trust Senior Fellow and NV’s studies on thalidomide were supported by The Wellcome Trust. We all thank lab members past and present for their help and support.
Davey, Megan +3 more
core +2 more sources
Pathways to enhancing prenatal diagnosis of skeletal dysplasias
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang +4 more
wiley +1 more source
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function. [PDF]
, 2017 We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by microcephaly, intellectual disability ...
Ashokkumar, B +17 more
core +1 more source
First Complete Morphological Description of Schistosoma Reflexum in a Llama
Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.ABSTRACT Schistosoma reflexum (SR) is a lethal congenital malformation characterized by severe spinal retroflexion, thoracoabdominoschisis with visceral exposure. This case report aims to describe the morphology and pathology of SR in a llama. A white male llama (Lama glama) cria was delivered with dystocia following a normal gestation.
Carmen Luginbühl +7 more
wiley +1 more source
A dominant missense variant within LMBR1 related to equine polydactyly
Communications BiologyPolydactyly was recorded before 100 BCE and attracted widespread interest because of its relationship to limb health and ancestral traits in horses. However, the underlying reasons for the development of polydactyly remain unclear.
Yue Luan +7 more
doaj +1 more source