Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Ju-Shan Yu"'
Publikováno v:
Pediatrics and Neonatology, Vol 52, Iss 3, Pp 165-168 (2011)
Interstitial deletion of the proximal short arm of chromosome 4 has rarely been described. This defect is associated with variable clinical manifestations, including mental retardation, unusual facial appearance, and minor limb abnormalities. We desc
Externí odkaz:
https://doaj.org/article/19723a97d63647c5a6a82a3772133e6e
Publikováno v:
Journal of the Formosan Medical Association, Vol 105, Iss 6, Pp 518-521 (2006)
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and
Externí odkaz:
https://doaj.org/article/99debaf5eb1f4e63b14fc68b64fedbfd
Autor:
PEN-HUA SU, JU-SHAN YU, YU-ZHEN WU, YU-SHEN TSAI, FU-SUNG LO, JU-LI LIN, MEI-CHYN CHAO, CHIA-CHI HSU, YU-YUAN KE, PAO-CHIN CHIU, JO-CHING CHEN, YING-HUA HUANG, SHUAN-PEI LIN, YEN-YIN CHOU, WEI-HSIN TING, SHUO-YU WANG, CHIAO-FAN CHIU, YEN-CHUN HUANG, HUI-PIN HSIAO, CHAO-HSU LIN
Publikováno v:
In Vivo; Jan/Feb2024, Vol. 38 Issue 1, p341-350, 10p
Publikováno v:
European Journal of Medical Genetics. 55:682-687
We hypothesized that responses to growth hormone (GH) therapy by idiopathic short stature (ISS) and growth hormone deficiency (GHD) patients were associated with single nucleotide polymorphisms (SNPs) in the leptin ( LEP ) and leptin receptor ( LEPR
Publikováno v:
Endocrine. 42:196-204
Leptin levels may regulate fat metabolism, skeletal growth, and puberty. Leptin gene variants affect risk of obesity, cancer, but their effect on onset of growth hormone deficiency (GHD) and idiopathic short stature (ISS) is unknown. We tested the hy
Publikováno v:
Pediatric Research. 71:361-367
Three single-nucleotide polymorphisms (SNPs) in the leptin (LEP) or leptin receptor (LEPR) genes were assessed for their association with central precocious puberty (CPP). The control group with the A/G SNP at LEPR 223 or A/G SNP at LEPR 109 exhibite
Publikováno v:
Pediatrics and Neonatology, Vol 52, Iss 3, Pp 165-168 (2011)
Interstitial deletion of the proximal short arm of chromosome 4 has rarely been described. This defect is associated with variable clinical manifestations, including mental retardation, unusual facial appearance, and minor limb abnormalities. We desc
Publikováno v:
Clinical Dysmorphology. 20:42-46
Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, developmental delay, and macrocephaly. Here, we present a 10-year-old girl with prenatal and postnatal overgrowth, prominent forehead, pointed chin, and advanced b
Publikováno v:
Pediatric Neurology. 40:387-391
Benign familial neonatal convulsions are a rare, autosomal-dominant form of neonatal epileptic syndrome. It can occur 1 week after birth, and usually involves frequent episodes, but with a benign course. The diagnosis depends on family history and cl
Publikováno v:
Journal of the Formosan Medical Association, Vol 105, Iss 6, Pp 518-521 (2006)
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and