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1989
2025

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

Year Number of Results
1989 1
1995 1
1996 1
1999 1
2000 1
2001 1
2002 2
2004 2
2010 3
2013 1
2014 1
2016 2
2017 1
2021 2
2022 1
2023 4
2025 0

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24 results

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Page 1
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Gazdagh G, Hunt D, Gonzalez AMC, Rodriguez MP, Chaudhry A, Madruga M, Vansenne F, Shears D, Curie A, Stattin EL, Anderlid BM, Trajkova S, Angelovska ES, McWilliam C, Wyatt PR, O'Driscoll M, Atton G, Bergman AK, Zacher P, Mewasingh LD, López AG, Alonso-Luengo O, Wai HA, Rohde O, Boiroux P, Debant A, Schmidt S, Baralle D. Gazdagh G, et al. Am J Med Genet A. 2023 Jul;191(7):1722-1740. doi: 10.1002/ajmg.a.63194. Epub 2023 Mar 29. Am J Med Genet A. 2023. PMID: 36987741 Review.
Clinical features were previously described and included developmental delay, learning difficulties, microcephaly, macrocephaly, seizures, behavioral issues (aggression, stereotypies), skeletal problems including short, tapering fingers and scoliosis, dental problem …
Clinical features were previously described and included developmental delay, learning difficulties, microcephaly, macrocephaly, seizures, b …
Pinch force generation during scaling by dental professionals: A systematic review.
Suedbeck JR, Ludwig EA. Suedbeck JR, et al. Int J Dent Hyg. 2023 Aug;21(3):514-523. doi: 10.1111/idh.12649. Epub 2023 Jan 19. Int J Dent Hyg. 2023. PMID: 36524311 Review.

Additionally, two articles found instruments with a round, tapered shape produced less pinch force and instrument handles made of silicone produced higher pinch strength post-scaling (p < 0.05). One study indicated instrument designs associated with modified scaling tec

Additionally, two articles found instruments with a round, tapered shape produced less pinch force and instrument handles made of sil …
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato N, Graul-Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D. Zweier C, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):290-301. doi: 10.1002/ajmg.c.31408. Epub 2014 Aug 5. Am J Med Genet C Semin Med Genet. 2014. PMID: 25099957 Review.
Recently, de novo aberrations in PHF6 were identified in females with intellectual disability and with a distinct phenotype including a characteristic facial gestalt with bitemporal narrowing, prominent supraorbital ridges, synophrys, a short nose and dental anomalies, taperin
Recently, de novo aberrations in PHF6 were identified in females with intellectual disability and with a distinct phenotype including a char …
Coffin-Lowry syndrome: clinical and molecular features.
Hanauer A, Young ID. Hanauer A, et al. J Med Genet. 2002 Oct;39(10):705-13. doi: 10.1136/jmg.39.10.705. J Med Genet. 2002. PMID: 12362025 Free PMC article. Review.
The hands are broad with soft, stubby, tapering fingers. Other clinical findings include short stature (95%), a pectus deformity (80%), a kyphosis and/or scoliosis (80%), mitral valve dysfunction, and sensorineural hearing loss. ...
The hands are broad with soft, stubby, tapering fingers. Other clinical findings include short stature (95%), a pectus deformi …
SARS-CoV-2 Parainfectious Optic Neuropathy: 3 Case Reports and a Review of the Literature.
Gluckstein JA, Chwalisz BK, Gilbert AL, Bouffard MA. Gluckstein JA, et al. J Neuroophthalmol. 2023 Dec 1;43(4):491-498. doi: 10.1097/WNO.0000000000001822. Epub 2023 Mar 2. J Neuroophthalmol. 2023. PMID: 37974364 Review.
RESULTS: We report 2 cases of monophasic, unilateral SARS-CoV-2 parainfectious optic neuritis with optic disc edema and nadir visual acuities of finger counting. We report 1 case of mild SARS-CoV-2 parainfectious optic neuritis that featured cotton wool spots, peripapillar …
RESULTS: We report 2 cases of monophasic, unilateral SARS-CoV-2 parainfectious optic neuritis with optic disc edema and nadir visual acuitie …
Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.
Liu S, Chen M, Yang H, Chen S, Wang L, Duan L, Zhu H, Pan H. Liu S, et al. Front Endocrinol (Lausanne). 2021 Dec 9;12:776835. doi: 10.3389/fendo.2021.776835. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34956087 Free PMC article. Review.
Physical exam revealed proportionally short stature with a height of 111.10 cm (-3.02 SD score (SDS)), low-set ears, a high-arched palate, a small jaw, webbed neck, widely spaced nipples, long and tapering fingers, and cubitus valgus. Thyroid function test indicated …
Physical exam revealed proportionally short stature with a height of 111.10 cm (-3.02 SD score (SDS)), low-set ears, a high-arched palate, a …
Timing of surgery in traumatic globe dislocation.
Alam MS, Noronha OV, Mukherjee B. Alam MS, et al. Indian J Ophthalmol. 2017 Aug;65(8):767-770. doi: 10.4103/ijo.IJO_221_17. Indian J Ophthalmol. 2017. PMID: 28820172 Free PMC article. Review.
She was also administered 1 g intravenous methylprednisolone along with tapering course of oral steroids for 3 days. Patient's final visual acuity at 18 months of follow-up improved to counting fingers at 1 m. ...
She was also administered 1 g intravenous methylprednisolone along with tapering course of oral steroids for 3 days. Patient's final …
[Mechanism, diagnosis, and treatment of steroid myopathy].
Kohsaka H. Kohsaka H. Brain Nerve. 2013 Nov;65(11):1375-80. Brain Nerve. 2013. PMID: 24200615 Review. Japanese.
Recent studies have shown that steroid-mediated induction of ubiquitin ligases (atrogin-1, muscle RING finger-1) and suppression of mammalian/mechanistic target of rapamycin cause an imbalance between anabolism and catabolism of muscle proteins, resulting in muscle atrophy …
Recent studies have shown that steroid-mediated induction of ubiquitin ligases (atrogin-1, muscle RING finger-1) and suppression of m …
Bilateral Panuveitis Associated with Morvan Syndrome: A Case Report and Review of the Literature.
Kryshtalskyj MT, Devenyi RG, Roy M. Kryshtalskyj MT, et al. Ocul Immunol Inflamm. 2023 May;31(4):851-855. doi: 10.1080/09273948.2022.2054823. Epub 2022 Apr 11. Ocul Immunol Inflamm. 2023. PMID: 35404744 Review.
Uveitis consistently flared with attempted immunosuppressive tapers. Vision deteriorated to count fingers (2 ft) OU over 2.5 years despite corticosteroids, mycophenolate mofetil, intravenous immunoglobulin, adalimumab, and rituximab. ...
Uveitis consistently flared with attempted immunosuppressive tapers. Vision deteriorated to count fingers (2 ft) OU over 2.5 y …
A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome.
Touraine RL, Zeniou M, Hanauer A. Touraine RL, et al. Eur J Pediatr. 2002 Apr;161(4):179-87. doi: 10.1007/s00431-001-0904-6. Eur J Pediatr. 2002. PMID: 12014383 Review.
Their large and soft hands with lax skin and tapering fingers, are usually a strong diagnostic feature. Some patients present with additional complications including, sensorineural deafness, seizures, drop episodes and cardiac disease. ...A majority of carrier femal …
Their large and soft hands with lax skin and tapering fingers, are usually a strong diagnostic feature. Some patients present …
24 results