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The following term was not found in PubMed: dysplasia-intellectual
Page 1
Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G. Spahiu L, et al. J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1. J Mother Child. 2023. PMID: 36803942 Free PMC article. Review.
Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dystrophy, abnormalities in the respiratory system, renal cysts, hepatic fibrosis, and skeletal changes. Such pleiotropic charact …
Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, reti …
New understanding of the pathogenesis and treatment of stroke-related sarcopenia.
Li W, Yue T, Liu Y. Li W, et al. Biomed Pharmacother. 2020 Nov;131:110721. doi: 10.1016/j.biopha.2020.110721. Epub 2020 Sep 10. Biomed Pharmacother. 2020. PMID: 32920517 Free article. Review.
Sarcopenia is a syndrome characterized by progressive systemic muscle loss and decreased function. ...More and more evidence shows that stroke-related sarcopenia can promote the occurrence and development of sarcopenia through a variety of pathogenesis, such as immobilizat …
Sarcopenia is a syndrome characterized by progressive systemic muscle loss and decreased function. ...More and more evidence shows th …
Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R. Gavril EC, et al. Genes (Basel). 2023 Feb 11;14(2):465. doi: 10.3390/genes14020465. Genes (Basel). 2023. PMID: 36833393 Free PMC article. Review.
2q37 microdeletion/deletion syndrome (2q37DS) is one of the most common subtelomeric deletion disorders, caused by a 2q37 deletion of variable size. The syndrome is characterized by a broad and diverse spectrum of clinical findings: characteristic facial dysmorphism …
2q37 microdeletion/deletion syndrome (2q37DS) is one of the most common subtelomeric deletion disorders, caused by a 2q37 deletion of …
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.
PURPOSE: Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants inCHD4. ...Additional common abnormalities included hypogonadism in males, skeletal and limb anomalies, hearing impairment, and …
PURPOSE: Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo var …
Trigger Point Management.
Shipton B, Sagar S, Mall JK. Shipton B, et al. Am Fam Physician. 2023 Feb;107(2):159-164. Am Fam Physician. 2023. PMID: 36791442
Trigger points producing myofascial pain syndromes are common in primary care. Located within skeletal muscle, trigger points are taut, band-like nodules capable of producing pain and disability. Some evidence from clinical trials supports massage, phy …
Trigger points producing myofascial pain syndromes are common in primary care. Located within skeletal muscle, trigger …
Genotype-Phenotype Correlation in Fibrous Dysplasia/McCune-Albright Syndrome.
Zhadina M, Roszko KL, Geels RES, de Castro LF, Collins MT, Boyce AM. Zhadina M, et al. J Clin Endocrinol Metab. 2021 Apr 23;106(5):1482-1490. doi: 10.1210/clinem/dgab053. J Clin Endocrinol Metab. 2021. PMID: 33512531 Free PMC article.
CONTEXT: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare bone and endocrine disorder resulting in fractures, pain, and disability. There are no targeted or effective therapies to alter the disease course. Disease arises from somatic gain-of-func …
CONTEXT: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare bone and endocrine disorder resulting in fractures, pain, and …
ATR-X syndrome: genetics, clinical spectrum, and management.
León NY, Harley VR. León NY, et al. Hum Genet. 2021 Dec;140(12):1625-1634. doi: 10.1007/s00439-021-02361-5. Epub 2021 Sep 15. Hum Genet. 2021. PMID: 34524523
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominantly affecting males, characterized by mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. ...M …
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominantly affecting m …
Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency.
Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health. Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Feb 25;51(1):122-128. doi: 10.3724/zdxbyxb-2022-0107. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 36161784 Free PMC article. English.
The clinical manifestations are heterogeneous, mainly with heart, liver, skeletal muscle and brain damage, and the onset of which can be from newborn to adult. ...The clinical manifestations are heterogeneous, mainly with heart, liver, skeletal muscle and brain dama …
The clinical manifestations are heterogeneous, mainly with heart, liver, skeletal muscle and brain damage, and the onset of which can …
Treatment of Satoyoshi syndrome: a systematic review.
Solís-García Del Pozo J, de Cabo C, Solera J. Solís-García Del Pozo J, et al. Orphanet J Rare Dis. 2019 Jun 19;14(1):146. doi: 10.1186/s13023-019-1120-7. Orphanet J Rare Dis. 2019. PMID: 31217029 Free PMC article. Review.
Its main symptoms are: painful muscle spasms, diarrhea, alopecia and skeletal abnormalities. Clinical course without treatment may result in serious disability or death. ...Genetic or autoimmune markers will be useful to guide future therapies....
Its main symptoms are: painful muscle spasms, diarrhea, alopecia and skeletal abnormalities. Clinical course without treatment may re …
The clinical geneticist and the evaluation of failure to thrive versus failure to feed.
Rabago J, Marra K, Allmendinger N, Shur N. Rabago J, et al. Am J Med Genet C Semin Med Genet. 2015 Dec;169(4):337-48. doi: 10.1002/ajmg.c.31465. Epub 2015 Nov 18. Am J Med Genet C Semin Med Genet. 2015. PMID: 26581677 Review.
Common clinical genetic referrals for the pediatric patient include a single major or multiple minor anomalies, dysmorphic features, especially when accompanied by developmental delay or intellectual disability, and failure to thrive (FTT). This review provides pediatric d …
Common clinical genetic referrals for the pediatric patient include a single major or multiple minor anomalies, dysmorphic features, especia …
49 results