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

Year Number of Results
1963 3
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1965 1
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1968 6
1969 5
1970 6
1971 7
1972 5
1973 8
1974 4
1975 6
1976 4
1977 3
1978 1
1979 2
1980 2
1981 3
1982 4
1983 2
1984 4
1985 3
1986 3
1987 4
1989 4
1990 5
1991 4
1992 2
1993 3
1994 3
1995 7
1996 7
1997 5
1998 5
1999 6
2000 7
2001 6
2002 8
2003 7
2004 3
2005 2
2006 5
2007 10
2008 8
2009 11
2010 10
2011 13
2012 8
2013 13
2014 9
2015 19
2016 15
2017 11
2018 8
2019 15
2020 18
2021 17
2022 13
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2024 3

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365 results

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Quoted phrase not found in phrase index: "INTELLECTUAL DEVELOPMENTAL DISORDER AND HYPOGONADOTROPIC HYPOGONADISM"
Page 1
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
Butler MG, Miller JL, Forster JL. Butler MG, et al. Curr Pediatr Rev. 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. Curr Pediatr Rev. 2019. PMID: 31333129 Free PMC article. Review.
BACKGROUND: Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes inherited from the paternal chromosome 15q11-q13 region usually from paternal 15q11-q13 deletions (about 60%) or maternal uniparental disomy 15 or b …
BACKGROUND: Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes inherite …
Prader-Willi syndrome.
Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Cassidy SB, et al. Genet Med. 2012 Jan;14(1):10-26. doi: 10.1038/gim.0b013e31822bead0. Epub 2011 Sep 26. Genet Med. 2012. PMID: 22237428 Free article. Review.
Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial features; early-childhood onset obesity and hyperphagia; developmental
Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genit …
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.
Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.
Angulo MA, Butler MG, Cataletto ME. Angulo MA, et al. J Endocrinol Invest. 2015 Dec;38(12):1249-63. doi: 10.1007/s40618-015-0312-9. Epub 2015 Jun 11. J Endocrinol Invest. 2015. PMID: 26062517 Free PMC article. Review.
INTRODUCTION: Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. ...As the individual ages, other features such as short stature, food seeking with excessi …
INTRODUCTION: Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the pa …
Prader-Willi Syndrome and Hypogonadism: A Review Article.
Noordam C, Höybye C, Eiholzer U. Noordam C, et al. Int J Mol Sci. 2021 Mar 8;22(5):2705. doi: 10.3390/ijms22052705. Int J Mol Sci. 2021. PMID: 33800122 Free PMC article. Review.
Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural problems, hypothalamic dysfunction and specific dysmorphisms. Hypothalamic dysfunction causes dysregulation of energy balance and endocrine de …
Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural pr …
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 …
Prader-Willi syndrome.
Cassidy SB, Driscoll DJ. Cassidy SB, et al. Eur J Hum Genet. 2009 Jan;17(1):3-13. doi: 10.1038/ejhg.2008.165. Epub 2008 Sep 10. Eur J Hum Genet. 2009. PMID: 18781185 Free PMC article.
Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insuf …
Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifes …
Prader-Willi syndrome: endocrine manifestations and management.
Alves C, Franco RR. Alves C, et al. Arch Endocrinol Metab. 2020 May-Jun;64(3):223-234. doi: 10.20945/2359-3997000000248. Arch Endocrinol Metab. 2020. PMID: 32555988 Free PMC article. Review.
Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of gene expression in the 15q11.2-q13 paternal chromosome. Patients with PWS develop hypothalamic dysfunction that can lead to various endocrine changes such as: obesity, growth hormone deficiency, …
Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of gene expression in the 15q11.2-q13 paternal chromosome. Pa …
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.
Xu W, Plummer L, Quinton R, Swords F, Crowley WF, Seminara SB, Balasubramanian R. Xu W, et al. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005033. doi: 10.1101/mcs.a005033. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32376645 Free PMC article. Review.
Biallelic pathogenic variants in RAB3GAP2 cause Warburg Micro syndrome (WARBM) and Martsolf syndrome (MS), two rare, phenotypically overlapping disorders characterized by congenital cataracts, intellectual disability, and hypogonadism. Although the initial re …
Biallelic pathogenic variants in RAB3GAP2 cause Warburg Micro syndrome (WARBM) and Martsolf syndrome (MS), two rare, phenotypically overlapp …
Prader-Willi syndrome.
Cassidy SB. Cassidy SB. J Med Genet. 1997 Nov;34(11):917-23. doi: 10.1136/jmg.34.11.917. J Med Genet. 1997. PMID: 9391886 Free PMC article. Review.
Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic …
Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficienc …
365 results