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

Year Number of Results
1963 1
1964 2
1966 1
1967 1
1968 3
1969 5
1970 5
1971 5
1972 14
1973 10
1974 16
1975 34
1976 34
1977 25
1978 31
1979 38
1980 39
1981 61
1982 57
1983 82
1984 111
1985 125
1986 122
1987 130
1988 124
1989 165
1990 172
1991 182
1992 193
1993 198
1994 257
1995 284
1996 296
1997 328
1998 331
1999 338
2000 362
2001 376
2002 415
2003 395
2004 411
2005 470
2006 531
2007 567
2008 580
2009 595
2010 693
2011 829
2012 897
2013 904
2014 928
2015 970
2016 979
2017 974
2018 1002
2019 1035
2020 1179
2021 1305
2022 1297
2023 1233
2024 535

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20,664 results

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Quoted phrase not found in phrase index: "Pheochromocytoma-islet cell tumor syndrome"
Page 1
Aplastic anemia: Pathophysiology.
Giudice V, Selleri C. Giudice V, et al. Semin Hematol. 2022 Jan;59(1):13-20. doi: 10.1053/j.seminhematol.2021.12.002. Epub 2022 Jan 5. Semin Hematol. 2022. PMID: 35491054 Review.
In inherited diseases, germline mutations occur in the hematopoietic stem and progenitor cell (HSPC) compartment causing a progressive loss of normal hematopoiesis, while in acquired syndromes, HPSC compartment disruption can be caused by an extrinsic direct damage …
In inherited diseases, germline mutations occur in the hematopoietic stem and progenitor cell (HSPC) compartment causing a progressiv …
Cystic lung disease.
Cabeza Martínez B, Giménez Palleiro A, Mazzini Florindez SP. Cabeza Martínez B, et al. Radiologia (Engl Ed). 2022 Dec;64 Suppl 3:265-276. doi: 10.1016/j.rxeng.2022.09.005. Radiologia (Engl Ed). 2022. PMID: 36737165 Free article.
A wide variety of diseases are characterised by the presence of diffuse pulmonary cysts. Among these, the most common are lymphangioleiomyomatosis, which may or may not be associated with tuberous sclerosis, Langerhans cell histiocytosis, and lymphocytic interstitia …
A wide variety of diseases are characterised by the presence of diffuse pulmonary cysts. Among these, the most common are lymphangiol …
Neurofibromatosis type 1.
Cimino PJ, Gutmann DH. Cimino PJ, et al. Handb Clin Neurol. 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X. Handb Clin Neurol. 2018. PMID: 29478615 Review.
However, recent studies aimed at understanding the role of the NF1 protein (neurofibromin) as a tumor suppressor have revealed that this profound level of clinical heterogeneity may reflect tissue and region-specific effects, sexually dimorphic influences, and the contribu …
However, recent studies aimed at understanding the role of the NF1 protein (neurofibromin) as a tumor suppressor have revealed that t …
The trisomy 18 syndrome.
Cereda A, Carey JC. Cereda A, et al. Orphanet J Rare Dis. 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. Orphanet J Rare Dis. 2012. PMID: 23088440 Free PMC article. Review.
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. ...Currently most cases of trisomy 18 are prenatally diagnosed, based on scr …
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chro …
Diagnostic Pathology of Tumors of Peripheral Nerve.
Belakhoua SM, Rodriguez FJ. Belakhoua SM, et al. Neurosurgery. 2021 Feb 16;88(3):443-456. doi: 10.1093/neuros/nyab021. Neurosurgery. 2021. PMID: 33588442 Free PMC article. Review.
The discussion will cover schwannoma, neurofibroma, atypical neurofibromatous neoplasms of uncertain biological potential, intraneural and soft tissue perineurioma, hybrid nerve sheath tumors, MPNST, and the recently renamed enigmatic tumor, malignant …
The discussion will cover schwannoma, neurofibroma, atypical neurofibromatous neoplasms of uncertain biological potential, int …
An update on the central nervous system manifestations of neurofibromatosis type 1.
Nix JS, Blakeley J, Rodriguez FJ. Nix JS, et al. Acta Neuropathol. 2020 Apr;139(4):625-641. doi: 10.1007/s00401-019-02002-2. Epub 2019 Apr 8. Acta Neuropathol. 2020. PMID: 30963251 Free PMC article. Review.
In addition, there is increasing evidence that similar appearing CNS neoplasms in people with and without the NF1 syndrome are due to distinct oncogenic pathways. ...Ongoing efforts are seeking to improve diagnostic accuracy for CNS neoplasms in the setting o …
In addition, there is increasing evidence that similar appearing CNS neoplasms in people with and without the NF1 syndrome are …
Mitochondrial Function in Modulating Human Granulosa Cell Steroidogenesis and Female Fertility.
Sreerangaraja Urs DB, Wu WH, Komrskova K, Postlerova P, Lin YF, Tzeng CR, Kao SH. Sreerangaraja Urs DB, et al. Int J Mol Sci. 2020 May 19;21(10):3592. doi: 10.3390/ijms21103592. Int J Mol Sci. 2020. PMID: 32438750 Free PMC article.
The first and rate-limiting step in the biosynthesis of steroid hormones occurs in the mitochondria of granulosa cells. In the present study, we hypothesized that the mitochondria in granulosa cells are critical for maintaining oocyte quality and fertility capacity. …
The first and rate-limiting step in the biosynthesis of steroid hormones occurs in the mitochondria of granulosa cells. In the presen …
Scaffold-Free Endometrial Organoids Respond to Excess Androgens Associated With Polycystic Ovarian Syndrome.
Wiwatpanit T, Murphy AR, Lu Z, Urbanek M, Burdette JE, Woodruff TK, Kim JJ. Wiwatpanit T, et al. J Clin Endocrinol Metab. 2020 Mar 1;105(3):769-80. doi: 10.1210/clinem/dgz100. J Clin Endocrinol Metab. 2020. PMID: 31614364 Free PMC article.
RESULTS: A method to generate scaffold-free endometrial organoids containing epithelial and stromal cells was established. These organoids exhibited distinct organization with epithelial cells lining the outer surface and stromal cells in the center of the or …
RESULTS: A method to generate scaffold-free endometrial organoids containing epithelial and stromal cells was established. These orga …
Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers.
Jahn A, Rump A, Widmann TJ, Heining C, Horak P, Hutter B, Paramasivam N, Uhrig S, Gieldon L, Drukewitz S, Kübler A, Bermudez M, Hackmann K, Porrmann J, Wagner J, Arlt M, Franke M, Fischer J, Kowalzyk Z, William D, Weth V, Oster S, Fröhlich M, Hüllein J, Valle González C, Kreutzfeldt S, Mock A, Heilig CE, Lipka DB, Möhrmann L, Hanf D, Oleś M, Teleanu V, Allgäuer M, Ruhnke L, Kutz O, Knurr A, Laßmann A, Endris V, Neumann O, Penzel R, Beck K, Richter D, Winter U, Wolf S, Pfütze K, Geörg C, Meißburger B, Buchhalter I, Augustin M, Aulitzky WE, Hohenberger P, Kroiss M, Schirmacher P, Schlenk RF, Keilholz U, Klauschen F, Folprecht G, Bauer S, Siveke JT, Brandts CH, Kindler T, Boerries M, Illert AL, von Bubnoff N, Jost PJ, Metzeler KH, Bitzer M, Schulze-Osthoff K, von Kalle C, Brors B, Stenzinger A, Weichert W, Hübschmann D, Fröhling S, Glimm H, Schröck E, Klink B. Jahn A, et al. Ann Oncol. 2022 Nov;33(11):1186-1199. doi: 10.1016/j.annonc.2022.07.008. Epub 2022 Aug 18. Ann Oncol. 2022. PMID: 35988656 Free article.
BACKGROUND: Germline variant evaluation in precision oncology opens new paths toward the identification of patients with genetic tumor risk syndromes and the exploration of therapeutic relevance. ...Another 5% of patients (n = 75) were heterozygous carriers for rece …
BACKGROUND: Germline variant evaluation in precision oncology opens new paths toward the identification of patients with genetic tumor …
The Role of Telomeres in Human Disease.
Armanios M. Armanios M. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:363-381. doi: 10.1146/annurev-genom-010422-091101. Epub 2022 Jun 24. Annu Rev Genomics Hum Genet. 2022. PMID: 35609925 Free PMC article. Review.
Less understood are a newly recognized group of cancer-prone syndromes that are associated with mutations that lengthen telomeres. ...For example, short telomeres have been considered potent drivers of genome instability, but age-associated solid tumors are rare in …
Less understood are a newly recognized group of cancer-prone syndromes that are associated with mutations that lengthen telomeres. .. …
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