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A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.
Faryal S, Farooq M, Abdullah U, Ali Z, Saadi SM, Ullah F, Khan K, Sarwar Y, Sher M, Chopra AA, Tommerup N, Baig SM. Faryal S, et al. Eur J Med Genet. 2021 Jul;64(7):104226. doi: 10.1016/j.ejmg.2021.104226. Epub 2021 Apr 16. Eur J Med Genet. 2021. PMID: 33872773 Review.
Different mutations in the Growth/Differentiation Factor 5 gene (GDF5) have been associated with varying types of skeletal dysplasia, including Grebe type chondrodysplasia (GTC), Hunter-Thompson syndrome, Du Pan Syndrome and Brachydactyly type C (BDC). ...
Different mutations in the Growth/Differentiation Factor 5 gene (GDF5) have been associated with varying types of skeletal dysplasia, includ …
Steroid profiling in the diagnosis of mild and overt Cushing's syndrome.
Athimulam S, Grebe S, Bancos I. Athimulam S, et al. Best Pract Res Clin Endocrinol Metab. 2021 Jan;35(1):101488. doi: 10.1016/j.beem.2021.101488. Epub 2021 Feb 6. Best Pract Res Clin Endocrinol Metab. 2021. PMID: 33589355 Free PMC article. Review.
In this review, we provide a comprehensive overview of the utility of steroid profiling for diagnosis of management of overt Cushing syndrome and mild autonomous cortisol secretion. A diagnosis of Cushing syndrome is made through a multistep process that includes co …
In this review, we provide a comprehensive overview of the utility of steroid profiling for diagnosis of management of overt Cushing synd
Prenatal diagnosis and postnatal outcome of fetal congenital knee dislocation: systematic review of literature.
Cavoretto PI, Castoldi M, Corbella G, Forte A, Moharamzadeh D, Emedoli D, Candiani M, De Pellegrin M. Cavoretto PI, et al. Ultrasound Obstet Gynecol. 2023 Dec;62(6):778-787. doi: 10.1002/uog.26283. Ultrasound Obstet Gynecol. 2023. PMID: 37289939 Free article. Review.
Its prenatal diagnosis is challenging and not well described in the literature, especially when it appears isolated and not as part of a complex malformation or syndromic pattern. The purpose of this study was to provide a comprehensive review of the available literature o …
Its prenatal diagnosis is challenging and not well described in the literature, especially when it appears isolated and not as part of a com …
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J. Yokote K, et al. Hum Mutat. 2017 Jan;38(1):7-15. doi: 10.1002/humu.23128. Epub 2016 Oct 7. Hum Mutat. 2017. PMID: 27667302 Free PMC article. Review.
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. ...In this update, we summarize a total of 83 different WRN mutations, including eight prev …
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent wit …
Clinical applications of LC-MS sex steroid assays: evolution of methodologies in the 21st century.
Ketha H, Kaur S, Grebe SK, Singh RJ. Ketha H, et al. Curr Opin Endocrinol Diabetes Obes. 2014 Jun;21(3):217-26. doi: 10.1097/MED.0000000000000068. Curr Opin Endocrinol Diabetes Obes. 2014. PMID: 24739314 Review.
RECENT FINDINGS: Measurement of sex steroids, particularly testosterone and estradiol, is important for diagnosis or management of a host of conditions (e.g. disorders of puberty, hypogonadism, polycystic ovary syndrome, amenorrhea, and tumors of ovary, testes, breast and …
RECENT FINDINGS: Measurement of sex steroids, particularly testosterone and estradiol, is important for diagnosis or management of a host of …
[Grebe syndrome].
Ieshima A. Ieshima A. Ryoikibetsu Shokogun Shirizu. 2001;(33):769-70. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462677 Review. Japanese. No abstract available.
[Idiopathic systemic capillary leak syndrome (Clarkson disease) : A rare cause of recurrent life-threatening edema].
Dasdelen S, Grebe SO. Dasdelen S, et al. Internist (Berl). 2018 Jul;59(7):725-735. doi: 10.1007/s00108-018-0409-2. Internist (Berl). 2018. PMID: 29619573 Review. German.
Despite all treatment measures a severe compartment syndrome of the lower extemities with subsequent rhabdomyelosis developed. The patient ultimately died as a result of treatment-refractory cardiovascular failure. The idiopathic systemic capillary leak syndrome (SC …
Despite all treatment measures a severe compartment syndrome of the lower extemities with subsequent rhabdomyelosis developed. The pa …