- A Case of Leri-Weill Syndrome
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Eun SE, Park HJ, Jung MH, Lee BC
- KMID: 2144625
- J Korean Soc Pediatr Endocrinol.
- 2001 Dec;6(2):165-170.
Leri-Weill syndrome or Leri-Weill dyschondrosteosis represents a short stature syndrome that is characterized by symmetric shortening of the forearms and lower legs and a bilateral shortening and bowing of the... -
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- Genetic syndromes associated with overgrowth in childhood
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Ko JM
- KMID: 2266359
- Ann Pediatr Endocrinol Metab.
- 2013 Sep;18(3):101-105.
- doi: 10.6065/apem.2013.18.3.101
Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology... -
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- Screening of the Single Nucleotide Polymorphisms in the Protamine 1 and 2 Genes of Korean Infertile Men
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Lee HS, Choi HW, Park YS, Seo JT, Koong MK, Jun JH
- KMID: 1864691
- Korean J Fertil Steril.
- 2005 Sep;32(3):279-286.
OBJECTIVE: Although several genetic factors have been associated with defects in human spermatogenesis, the unambiguous causative genes have not been elucidated. The male infertility by haploinsufficiency of PRM1 or PRM2... -
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- Role of Endoplasmic Reticulum Stress in Rheumatoid Arthritis Pathogenesis
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Park YJ, Yoo SA, Kim WU
- KMID: 1796908
- J Korean Med Sci.
- 2014 Jan;29(1):2-11.
- doi: 10.3346/jkms.2014.29.1.2
Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by abnormal proliferation of synoviocytes, leukocyte infiltration, and angiogenesis. The endoplasmic reticulum (ER) is the site of biosynthesis for all secreted... -
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- Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2
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Kim YO, Lee YY, Kim MK, Woo YJ
- KMID: 2470101
- J Genet Med.
- 2019 Dec;16(2):71-75.
- doi: 10.5734/JGM.2019.16.2.71
Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat–Wilson syndrome (MWS) typically present with facial gestalt, complex... -
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- Turner syndrome presented with tall stature due to overdosage of the SHOX gene
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Seo GH, Kang E, Cho JH, Lee BH, Choi JH, Kim GH, Seo EJ, Yoo HW
- KMID: 2368996
- Ann Pediatr Endocrinol Metab.
- 2015 Jun;20(2):110-113.
- doi: 10.6065/apem.2015.20.2.110
Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis.... -
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- Glucose Transporter Type 1 Deficiency Syndrome
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Kim SK
- KMID: 2329511
- J Korean Child Neurol Soc.
- 2007 Nov;15(2):131-141.
D-glucose is an essential fuel for metabolism in mammalian cells and the predominant fuel source for the brain. Transport of glucose across tissue barriers is mediated by stereospecific transporter proteins.... -
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- BRCA1 and Breast Cancer: a Review of the Underlying Mechanisms Resulting in the Tissue-Specific Tumorigenesis in Mutation Carriers
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Semmler L, Reiter-Brennan C, Klein A
- KMID: 2441847
- J Breast Cancer.
- 2019 Mar;22(1):1-14.
- doi: 10.4048/jbc.2019.22.e6
Since the first cloning of BRCA1 in 1994, many of its cellular interactions have been elucidated. However, its highly specific role in tumorigenesis in the breast tissue—carriers of BRCA1 mutations... -
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