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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 1
1983 1
1984 1
1987 1
1990 1
1993 1
1994 3
1996 1
1997 1
1998 3
1999 3
2001 2
2003 1
2008 1
2011 2
2012 1
2014 4
2017 1
2018 1
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2023 2
2024 0

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32 results

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Page 1
Fragile X syndrome.
Saldarriaga W, Tassone F, González-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R. Saldarriaga W, et al. Colomb Med (Cali). 2014 Dec 30;45(4):190-8. eCollection 2014 Oct-Dec. Colomb Med (Cali). 2014. PMID: 25767309 Free PMC article. Review.
Individuals with FXS present with intellectual disability, autism, hyperactivity, long face, large or prominent ears and macroorchidism at puberty and thereafter. Most of the young children with FXS will present with language delay, sensory hyper arousal and anxiety. ...
Individuals with FXS present with intellectual disability, autism, hyperactivity, long face, large or prominent ears and macroorchidism
Macroorchidism in childhood and adolescence: an update.
De Sanctis V, Marsella M, Soliman A, Yassin M. De Sanctis V, et al. Pediatr Endocrinol Rev. 2014 Feb;11 Suppl 2:263-73. Pediatr Endocrinol Rev. 2014. PMID: 24683950 Review.
In clinical practice, when macroorchidism is suspected, the testicular volume may be evaluated with the Prader orchidometer and/or US, calculated by this formula: L x W x H x 0.71 and the resulting value should be compared with a table of percentiles for each age. Macro
In clinical practice, when macroorchidism is suspected, the testicular volume may be evaluated with the Prader orchidometer and/or US …
Fragile X and reproduction.
Martin JR, Arici A. Martin JR, et al. Curr Opin Obstet Gynecol. 2008 Jun;20(3):216-20. doi: 10.1097/GCO.0b013e3282fe7254. Curr Opin Obstet Gynecol. 2008. PMID: 18460934 Review.
The fully expanded form of the mutation leads to mental retardation and autism, whereas the premutation can lead to a neurological disorder called fragile X-associated tremor/ataxia, macroorchidism after puberty and premature ovarian failure. Fragile X is also a major caus …
The fully expanded form of the mutation leads to mental retardation and autism, whereas the premutation can lead to a neurological disorder …
Clinical review: Functioning gonadotroph adenomas.
Ntali G, Capatina C, Grossman A, Karavitaki N. Ntali G, et al. J Clin Endocrinol Metab. 2014 Dec;99(12):4423-33. doi: 10.1210/jc.2014-2362. J Clin Endocrinol Metab. 2014. PMID: 25166722 Review.
The following terms were used for the search: "functioning gonadotroph adenomas," "FSH secreting adenomas," "LH secreting adenomas," "gonadotroph adenomas," "ovarian hyperstimulation," "macroorchidism," "testicular enlargement," and "precocious puberty." EVIDENCE SYNTHESIS …
The following terms were used for the search: "functioning gonadotroph adenomas," "FSH secreting adenomas," "LH secreting adenomas," "gonado …
Phenotypic variability to medication management: an update on fragile X syndrome.
Elhawary NA, AlJahdali IA, Abumansour IS, Azher ZA, Falemban AH, Madani WM, Alosaimi W, Alghamdi G, Sindi IA. Elhawary NA, et al. Hum Genomics. 2023 Jul 7;17(1):60. doi: 10.1186/s40246-023-00507-2. Hum Genomics. 2023. PMID: 37420260 Free PMC article. Review.
FXS is an X-linked dominant disorder associated with a wide spectrum of clinical features, including but not limited to intellectual disability, autism spectrum disorder, language deficits, macroorchidism, seizures, and anxiety. Its prevalence in the general population is …
FXS is an X-linked dominant disorder associated with a wide spectrum of clinical features, including but not limited to intellectual disabil …
Fragile X syndrome.
Laxova R. Laxova R. Adv Pediatr. 1994;41:305-42. Adv Pediatr. 1994. PMID: 7992687 Review.
A characteristic but subtle phenotype includes an elongated face and mandible, large ears, macrocephaly with bizygomatic pinching, soft skin, inconsistent mitral valve prolapse, macroorchidism, mildly shortened stature in adulthood, and characteristic behavior that may res …
A characteristic but subtle phenotype includes an elongated face and mandible, large ears, macrocephaly with bizygomatic pinching, soft skin …
Congenital isolated central hypothyroidism: Novel mutations and their functional implications.
Boelen A, van Trotsenburg ASP, Fliers E. Boelen A, et al. Handb Clin Neurol. 2021;180:161-169. doi: 10.1016/B978-0-12-820107-7.00010-0. Handb Clin Neurol. 2021. PMID: 34225927 Review.
In 2012, loss-of-function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene, were reported as a genetic cause of a syndrome including X-linked congenital central hypothyroidism and adult macroorchidism. IGSF1 encodes a hypothalamic plasma membrane glycopro …
In 2012, loss-of-function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene, were reported as a genetic cause of a syndrome …
Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.
Peprah E. Peprah E. Ann Hum Genet. 2012 Mar;76(2):178-91. doi: 10.1111/j.1469-1809.2011.00694.x. Epub 2011 Dec 21. Ann Hum Genet. 2012. PMID: 22188182 Free PMC article. Review.
Fragile X syndrome (FXS) is characterized by moderate to severe intellectual disability, which is accompanied by macroorchidism and distinct facial morphology. FXS is caused by the expansion of the CGG trinucleotide repeat in the 5' untranslated region of the fragile X men …
Fragile X syndrome (FXS) is characterized by moderate to severe intellectual disability, which is accompanied by macroorchidism and d …
Phenotypic testicular abnormalities and pubertal development in boys with McCune-Albright syndrome.
Aversa T, Zirilli G, Corica D, De Luca F, Wasniewska M. Aversa T, et al. Ital J Pediatr. 2018 Nov 19;44(1):136. doi: 10.1186/s13052-018-0577-7. Ital J Pediatr. 2018. PMID: 30454028 Free PMC article. Review.
On the basis of such analysis, we concluded that:1) peripheral precocious puberty (PPP) is significantly more infrequent in boys than in girls; 2) the most common testicular abnormality at MAS presentation is macroorchidism, that may be either monolateral or bilateral; 3) …
On the basis of such analysis, we concluded that:1) peripheral precocious puberty (PPP) is significantly more infrequent in boys than in gir …
Fragile X syndrome.
Hagerman RJ. Hagerman RJ. Curr Probl Pediatr. 1987 Nov;17(11):621-74. doi: 10.1016/0045-9380(87)90011-9. Curr Probl Pediatr. 1987. PMID: 3325231 Review.
The fragile X syndrome is the most common inherited form of mental retardation known. Its phenotype includes large or prominent ears, macroorchidism, and characteristic behavioral problems. It has attracted the interest of cytogeneticists and molecular biologists because o …
The fragile X syndrome is the most common inherited form of mental retardation known. Its phenotype includes large or prominent ears, mac
32 results