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Quoted phrase not found in phrase index: "Hydrocephaly-tall stature-joint laxity syndrome"
Page 1
Foot and Ankle Injuries in Soccer.
Feria-Arias E, Boukhemis K, Kreulen C, Giza E. Feria-Arias E, et al. Am J Orthop (Belle Mead NJ). 2018 Oct;47(10). doi: 10.12788/ajo.2018.0096. Am J Orthop (Belle Mead NJ). 2018. PMID: 30481231
Repetitive ankle injuries in soccer players may cause chronic ankle instability, which includes both mechanical ligamentous laxity and functional changes. Chronic ankle pathology often requires surgery to repair ligamentous damage and remove soft-tissue or osseous impingem …
Repetitive ankle injuries in soccer players may cause chronic ankle instability, which includes both mechanical ligamentous laxity an …
Eyelid laxity and sleep apnea syndrome: a review.
Cristescu Teodor R, Mihaltan FD. Cristescu Teodor R, et al. Rom J Ophthalmol. 2019 Jan-Mar;63(1):2-9. Rom J Ophthalmol. 2019. PMID: 31198891 Free PMC article. Review.
The purpose of this paper is to review the association between a medical entity called the floppy eyelid syndrome (FES) and a very serious respiratory disease with repercussions on various other body organs and systems: the obstructive sleep apnea syndrome. ...
The purpose of this paper is to review the association between a medical entity called the floppy eyelid syndrome (FES) and a very se …
Blepharochalasis.
Bergin DJ, McCord CD, Berger T, Friedberg H, Waterhouse W. Bergin DJ, et al. Br J Ophthalmol. 1988 Nov;72(11):863-7. doi: 10.1136/bjo.72.11.863. Br J Ophthalmol. 1988. PMID: 3207663 Free PMC article.
A hypertrophic form, manifested as fat herniation, and an atrophic form, manifested as fat atrophy, have been described. Ptosis with excellent levator function, laxity of the lateral canthal structures with rounding of the lateral canthal angle, nasal fat pad atrophy, and …
A hypertrophic form, manifested as fat herniation, and an atrophic form, manifested as fat atrophy, have been described. Ptosis with excelle …
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Peracha H, et al. Mol Genet Metab. 2018 Sep;125(1-2):18-37. doi: 10.1016/j.ymgme.2018.05.004. Epub 2018 May 15. Mol Genet Metab. 2018. PMID: 29779902 Free PMC article. Review.
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. ...Currently, urinary and blood KS and C6S, the enzyme activity of GALNS, and GALNS molecular analysis are used …
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalact …
Clinical heterogeneity of polish patients with KAT6B-related disorder.
Klaniewska M, Bolanowska-Tyszko A, Latos-Bielenska A, Jezela-Stanek A, Szczaluba K, Krajewska-Walasek M, Ciara E, Pelc M, Jurkiewicz D, Stawinski P, Zubkiewicz-Kucharska A, Rydzanicz M, Ploski R, Smigiel R. Klaniewska M, et al. Mol Genet Genomic Med. 2023 Dec;11(12):e2265. doi: 10.1002/mgg3.2265. Epub 2023 Sep 1. Mol Genet Genomic Med. 2023. PMID: 37658610 Free PMC article.
Individuals with SBBYSS usually present with facial abnormalities, hypotonia, joint laxity, feeding problems, and long thumbs/great toes. This syndrome also typically involves skeletal problems including patellar hypoplasia/agenesis. METHODS: Here we report six SBBY …
Individuals with SBBYSS usually present with facial abnormalities, hypotonia, joint laxity, feeding problems, and long thumbs/great t …
Joint hypermobility and the heritable disorders of connective tissue: clinical and empirical evidence of links with psychiatry.
Baeza-Velasco C, Pailhez G, Bulbena A, Baghdadli A. Baeza-Velasco C, et al. Gen Hosp Psychiatry. 2015 Jan-Feb;37(1):24-30. doi: 10.1016/j.genhosppsych.2014.10.002. Epub 2014 Oct 16. Gen Hosp Psychiatry. 2015. PMID: 25459977 Review.
OBJECTIVE: The heritable disorders of connective tissue (HDCTs) are a group of genetic disorders affecting connective tissue matrix proteins. Fragility, laxity of tissues and joint hypermobility (JH) are commons features of HDCT for which the prognosis may range fro …
OBJECTIVE: The heritable disorders of connective tissue (HDCTs) are a group of genetic disorders affecting connective tissue matrix proteins …
Overactive bladder (OAB): a failed concept needing revision to accommodate an external anatomical control system.
Petros P, Quaghebeur J, Wyndaele JJ. Petros P, et al. World J Urol. 2022 Jul;40(7):1605-1613. doi: 10.1007/s00345-022-03938-z. Epub 2022 Feb 22. World J Urol. 2022. PMID: 35191991 Review.
THESIS AND AIMS: In 45 years, the definitions and practice of the urodynamically based overactive bladder (OAB)/detrusor overactivity (DO) system have failed to adequately address pathogenesis and cure of urinary urge incontinence, frequency and nocturia. METHODS: We analysed the …
THESIS AND AIMS: In 45 years, the definitions and practice of the urodynamically based overactive bladder (OAB)/detrusor overactivity (DO) s …
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K. Oppermann H, et al. Eur J Hum Genet. 2023 Nov;31(11):1251-1260. doi: 10.1038/s41431-023-01445-2. Epub 2023 Aug 30. Eur J Hum Genet. 2023. PMID: 37644171 Free PMC article.
Additional symptoms were muscular hypotonia, seizures, joint laxity, and abnormalities of the forehead. In Cux1(+/-) mice, we found delayed growth, histologically normal brains, and increased susceptibility to seizures. ...The post-transcriptional balance of CUX1 expressio …
Additional symptoms were muscular hypotonia, seizures, joint laxity, and abnormalities of the forehead. In Cux1(+/-) mice, we found d …
Fatigue in adults with Osteogenesis Imperfecta.
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM. Harsevoort AGJ, et al. BMC Musculoskelet Disord. 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. BMC Musculoskelet Disord. 2020. PMID: 31900144 Free PMC article.
BACKGROUND: Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. It has long been assumed that the functional ability and quality of …
BACKGROUND: Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, h …
Improvement in pain and patient-related outcome measures following hip arthroscopy in patients with femoroacetabular impingement syndrome and concomitant generalized ligamentous laxity: a systematic review.
Zhu XM, Toobaie A, Iansavichene A, Khan M, Degen RM. Zhu XM, et al. Knee Surg Sports Traumatol Arthrosc. 2022 Nov;30(11):3907-3915. doi: 10.1007/s00167-022-06997-2. Epub 2022 May 23. Knee Surg Sports Traumatol Arthrosc. 2022. PMID: 35604426 Review.
PURPOSE: Within orthopaedic sports medicine, concomitant ligamentous laxity is often found to be a negative prognostic factor for post-operative outcomes following various procedures. ...Therefore, the purpose of this study is to report on the outcomes of hip arthro …
PURPOSE: Within orthopaedic sports medicine, concomitant ligamentous laxity is often found to be a negative prognostic factor …
119 results