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Quoted phrase not found in phrase index: "INTELLECTUAL DEVELOPMENTAL DISORDER AND HYPOGONADOTROPIC HYPOGONADISM"
Page 1
Tall stature in children and adolescents.
Urakami T. Urakami T. Minerva Pediatr. 2020 Dec;72(6):472-483. doi: 10.23736/S0026-4946.20.05971-X. Epub 2020 Aug 4. Minerva Pediatr. 2020. PMID: 32748612 Review.
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious puberty and lipodystrophy, chromosome disorders, such as Trisomy X (47, XXX female), Klinefelter Syndrome (47, XXY), XYY syndrome (47, XYY mal …
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious pu …
Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction.
Tauber M, Hoybye C. Tauber M, et al. Lancet Diabetes Endocrinol. 2021 Apr;9(4):235-246. doi: 10.1016/S2213-8587(21)00002-4. Epub 2021 Feb 26. Lancet Diabetes Endocrinol. 2021. PMID: 33647242 Review.
Prader-Willi syndrome is a rare genetic neurodevelopmental disorder resulting from the loss of expression of maternally imprinted genes located in the paternal chromosomal region, 15q11-13. ...Growth hormone deficiency, hypogonadism, hypothyroidism, premature adrena …
Prader-Willi syndrome is a rare genetic neurodevelopmental disorder resulting from the loss of expression of maternally imprinted gen …
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. Weiss K, et al. Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7. Genet Med. 2020. PMID: 31388190 Free PMC article.
We performed adenosine triphosphate (ATP) hydrolysis and nucleosome remodeling assays on variants from five different CHD4 domains. RESULTS: The majority of participants had global developmental delay, mild to moderate intellectual disability, brain anomalies …
We performed adenosine triphosphate (ATP) hydrolysis and nucleosome remodeling assays on variants from five different CHD4 domains. RESULTS: …
Congenital cataracts-facial dysmorphism-neuropathy.
Kalaydjieva L. Kalaydjieva L. Orphanet J Rare Dis. 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. Orphanet J Rare Dis. 2006. PMID: 16939648 Free PMC article. Review.
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. To date, CCFDN has been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 patients have been diagnose …
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive …
Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.
Sugisawa C, Taniyama M, Sato T, Takahashi Y, Hasegawa T, Narumi S. Sugisawa C, et al. Endocr J. 2022 Jul 28;69(7):831-838. doi: 10.1507/endocrj.EJ21-0779. Epub 2022 Mar 2. Endocr J. 2022. PMID: 35236788 Free article. Review.
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that causes gonadotropin-releasing hormone (GnRH) deficiency and sexual immaturity. ...We describe the case of a 31-year-old man with normosmic-CHH, who also had obesity, type 2 diabetes and …
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that causes gonadotropin-releasing hormone (GnRH) def …
Prader-Willi Syndrome: A spectrum of anatomical and clinical features.
Hurren BJ, Flack NA. Hurren BJ, et al. Clin Anat. 2016 Jul;29(5):590-605. doi: 10.1002/ca.22686. Epub 2016 Jan 29. Clin Anat. 2016. PMID: 26749552 Review.
The phenotypical appearance of individuals with the syndrome follows a similar developmental course. During infancy, universal hypotonia accompanied by feeding problems, hypogonadism, and dolichocephaly are evident. ...In early childhood, the craniofacial features b …
The phenotypical appearance of individuals with the syndrome follows a similar developmental course. During infancy, universal hypoto …
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Lippincott MF, Xu W, Smith AA, Miao X, Lafont A, Shennib O, Farley GJ, Sabbagh R, Delaney A, Stamou M, Plummer L, Salnikov K, Georgopoulos NA, Mericq V, Quinton R, Mau-Them FT, Nambot S, Hamad A, Brittain H, Tooze RS, Calpena E, Wilkie AOM, Willems M, Crowley WF, Balasubramanian R, Lamarche-Vane N, Davis EE, Seminara SB. Lippincott MF, et al. Genet Med. 2022 Dec;24(12):2501-2515. doi: 10.1016/j.gim.2022.08.025. Epub 2022 Sep 30. Genet Med. 2022. PMID: 36178483 Free PMC article.
PURPOSE: The study aimed to identify novel genes for idiopathic hypogonadotropic hypogonadism (IHH). METHODS: A cohort of 1387 probands with IHH underwent exome sequencing and de novo, familial, and cohort-wide investigations. ...CONCLUSION: This study identified AR …
PURPOSE: The study aimed to identify novel genes for idiopathic hypogonadotropic hypogonadism (IHH). METHODS: A cohort of 1387 …
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Jain V, Foo SH, Chooi S, Moss C, Goodwin R, Berland S, Clarke AJ, Davies SJ, Corrin S, Murch O, Doyle S, Graham GE, Greenhalgh L, Holder SE, Johnson D, Kumar A, Ladda RL, Sell S, Begtrup A, Lynch SA, McCann E, Østern R, Pottinger C, Splitt M, Fry AE. Jain V, et al. Eur J Hum Genet. 2023 Dec;31(12):1421-1429. doi: 10.1038/s41431-023-01447-0. Epub 2023 Sep 14. Eur J Hum Genet. 2023. PMID: 37704779 Free PMC article.
Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. ...We analysed the clinical and genetic findings in our series and compared them with reported BFLS patients. Affected males had classic fe …
Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. …
Bone Health in Adults With Prader-Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study.
van Abswoude DH, Pellikaan K, Rosenberg AGW, Davidse K, Coupaye M, Høybye C, Markovic TP, Grugni G, Crinò A, Caixàs A, Poitou C, Mosbah H, Weir T, van Vlimmeren LA, Rutges JPHJ, De Klerk LWL, Zillikens MC, van der Lely AJ, de Graaff LCG. van Abswoude DH, et al. J Clin Endocrinol Metab. 2022 Dec 17;108(1):59-84. doi: 10.1210/clinem/dgac556. J Clin Endocrinol Metab. 2022. PMID: 36149817 Free PMC article.
The combination of hypotonia, low physical activity, and hypogonadism might lead to a decrease in bone mass and increase in fracture risk. ...RESULTS: We included 354 adults with PWS (median age 31 years; 43% males), of whom 51 (14%) had osteoporosis (T-score below …
The combination of hypotonia, low physical activity, and hypogonadism might lead to a decrease in bone mass and increase in fracture …
Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome.
Dağdeviren Çakır A, Baş F, Akın O, Şıklar Z, Özcabı B, Berberoğlu M, Kardelen AD, Bayramoğlu E, Poyrazoğlu Ş, Aydın M, Törel Ergür A, Gökşen D, Bolu S, Aycan Z, Tüysüz B, Ercan O, Evliyaoğlu O. Dağdeviren Çakır A, et al. J Clin Res Pediatr Endocrinol. 2021 Aug 23;13(3):308-319. doi: 10.4274/jcrpe.galenos.2021.2020.0228. Epub 2021 Feb 10. J Clin Res Pediatr Endocrinol. 2021. PMID: 33565750 Free PMC article.
Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.72.7 years. After two years of GH treatment, a significant increase i …
Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at nor …
165 results