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

Year Number of Results
1965 1
1976 1
1978 1
1983 1
1985 2
1988 1
1991 2
1992 1
1993 2
1994 1
1995 3
1996 1
1997 2
1998 1
1999 4
2000 4
2001 4
2002 2
2003 2
2004 3
2005 4
2006 5
2007 4
2008 5
2009 4
2010 5
2011 7
2012 7
2013 2
2014 3
2015 3
2016 10
2017 8
2018 6
2019 9
2020 9
2021 6
2022 12
2023 7
2024 3

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140 results

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Page 1
Diagnosis and Management of Multiple Myeloma: A Review.
Cowan AJ, Green DJ, Kwok M, Lee S, Coffey DG, Holmberg LA, Tuazon S, Gopal AK, Libby EN. Cowan AJ, et al. JAMA. 2022 Feb 1;327(5):464-477. doi: 10.1001/jama.2022.0003. JAMA. 2022. PMID: 35103762 Review.
This induction therapy combined with autologous hematopoietic stem cell transplantation followed by maintenance lenalidomide is standard of care for eligible patients. CONCLUSIONS AND RELEVANCE: Approximately 34 920 people in the US and 155 688 people worldwide are …
This induction therapy combined with autologous hematopoietic stem cell transplantation followed by maintenance lenalidomide is stand …
Epidemiology, Staging, and Management of Multiple Myeloma.
Padala SA, Barsouk A, Barsouk A, Rawla P, Vakiti A, Kolhe R, Kota V, Ajebo GH. Padala SA, et al. Med Sci (Basel). 2021 Jan 20;9(1):3. doi: 10.3390/medsci9010003. Med Sci (Basel). 2021. PMID: 33498356 Free PMC article. Review.
It is distinguished from smoldering myeloma and monoclonal gammopathy of undetermined significance by a high (>3 g/dL) level of M-protein (monoclonal light chains) and the presence of CRAB (Hypercalcemia, Renal failure, Anemia, Bone pain) symptoms, which include hypercalcemia, …
It is distinguished from smoldering myeloma and monoclonal gammopathy of undetermined significance by a high (>3 g/dL) level of M-protein …
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. ...This review wi …
Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dys …
Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.
Kohut TJ, Gilbert MA, Loomes KM. Kohut TJ, et al. Semin Liver Dis. 2021 Nov;41(4):525-537. doi: 10.1055/s-0041-1730951. Epub 2021 Jul 2. Semin Liver Dis. 2021. PMID: 34215014 Review.
Alagille syndrome (ALGS) is an autosomal dominant disorder caused by pathogenic variants in JAG1 or NOTCH2, which encode fundamental components of the Notch signaling pathway. Clinical features span multiple organ systems including hepatic, cardiac, vascular, renal, ske …
Alagille syndrome (ALGS) is an autosomal dominant disorder caused by pathogenic variants in JAG1 or NOTCH2, which encode fundamental compone …
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.
Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. ...
Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. …
Definition, evaluation, and classification of renal osteodystrophy: a position statement from Kidney Disease: Improving Global Outcomes (KDIGO).
Moe S, Drüeke T, Cunningham J, Goodman W, Martin K, Olgaard K, Ott S, Sprague S, Lameire N, Eknoyan G; Kidney Disease: Improving Global Outcomes (KDIGO). Moe S, et al. Kidney Int. 2006 Jun;69(11):1945-53. doi: 10.1038/sj.ki.5000414. Kidney Int. 2006. PMID: 16641930 Free article.
Kidney Disease: Improving Global Outcomes (KDIGO) sponsored a Controversies Conference on Renal Osteodystrophy to (1) develop a clear, clinically relevant, and internationally acceptable definition and classification system, (2) develop a consensus for bone biopsy evaluati …
Kidney Disease: Improving Global Outcomes (KDIGO) sponsored a Controversies Conference on Renal Osteodystrophy to (1) develop a clear, clini …
Primary hyperparathyroidism.
Silva BC, Cusano NE, Bilezikian JP. Silva BC, et al. Best Pract Res Clin Endocrinol Metab. 2018 Oct;32(5):593-607. doi: 10.1016/j.beem.2018.09.004. Epub 2018 Sep 22. Best Pract Res Clin Endocrinol Metab. 2018. PMID: 30449543 Review.
The clinical presentation of PHPT includes three phenotypes: target organ involvement of the renal and skeletal systems; mild asymptomatic hypercalcemia; and more recently, high PTH levels in the context of persistently normal albumin-corrected and ionized serum cal …
The clinical presentation of PHPT includes three phenotypes: target organ involvement of the renal and skeletal systems; mild …
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.
RESULTS: The majority of participants had global developmental delay, mild to moderate intellectual disability, brain anomalies, congenital heart defects, and dysmorphic features. Macrocephaly was a frequent but not universal finding. Additional common abnormalities …
RESULTS: The majority of participants had global developmental delay, mild to moderate intellectual disability, brain anomalies, congenit …
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.
Mellis R, Oprych K, Scotchman E, Hill M, Chitty LS. Mellis R, et al. Prenat Diagn. 2022 May;42(6):662-685. doi: 10.1002/pd.6115. Epub 2022 May 7. Prenat Diagn. 2022. PMID: 35170059 Free PMC article.

Diagnostic yield differed significantly between phenotypic sub-groups, ranging from 53% (95% CI 42%-63%, p < 0.0001) for isolated skeletal abnormalities, to 2% (95% CI 0%-5%, p = 0.04) for isolated increased nuchal translucency. CONCLUSION: Prenatal ES provides a

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Diagnostic yield differed significantly between phenotypic sub-groups, ranging from 53% (95% CI 42%-63%, p < 0.0001) for isolated skel

…
Primary hyperparathyroidism.
Silva BC, Cusano NE, Bilezikian JP. Silva BC, et al. Best Pract Res Clin Endocrinol Metab. 2024 Jan;38(1):101247. doi: 10.1016/j.beem.2018.09.013. Epub 2018 Sep 28. Best Pract Res Clin Endocrinol Metab. 2024. PMID: 30477754 Review.
The clinical presentation of PHPT includes three phenotypes: target organ involvement of the renal and skeletal systems; mild asymptomatic hypercalcemia; and more recently, high PTH levels in the context of persistently normal albumin-corrected and ionized serum cal …
The clinical presentation of PHPT includes three phenotypes: target organ involvement of the renal and skeletal systems; mild …
140 results