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

Year Number of Results
1977 1
1981 1
1985 1
1989 2
1991 1
1996 1
1998 2
2000 2
2001 3
2002 2
2003 5
2004 1
2005 2
2006 1
2007 1
2008 2
2009 3
2010 1
2011 4
2012 3
2013 2
2014 6
2015 6
2016 2
2017 2
2018 4
2019 1
2022 2
2023 2
2024 0

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60 results

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Page 1
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study; Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study; Férec C, Yang XJ… See abstract for full author list ➔ Cogné B, et al. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827496 Free PMC article.
The transcription factor FOXL2 in ovarian function and dysfunction.
De Baere E, Fellous M, Veitia RA. De Baere E, et al. Folia Histochem Cytobiol. 2009;47(5):S43-9. doi: 10.2478/v10042-009-0062-7. Folia Histochem Cytobiol. 2009. PMID: 20067892 Review.
They recapitulate the BPES phenotype and have provided insights into the pathology. Loss-of-function mutations in FOXL2 are predicted to lead to BPES and POF, while hypomorphic mutations might lead to BPES without ovarian dysfunction. ...
They recapitulate the BPES phenotype and have provided insights into the pathology. Loss-of-function mutations in FOXL2 are predicted …
Evaluation of ovarian reserve in young females with non-iatrogenic ovarian insufficiency to establish criteria for ovarian tissue cryopreservation.
Zajicek M, Volodarsky-Perel A, Shai D, Dick-Necula D, Raanani H, Gruber N, Karplus G, Kassif E, Weisz B, Meirow D. Zajicek M, et al. Reprod Biomed Online. 2023 Jul;47(1):102-109. doi: 10.1016/j.rbmo.2023.03.004. Epub 2023 Mar 12. Reprod Biomed Online. 2023. PMID: 37120360
RESEARCH QUESTION: Can ovarian reserve parameters predict the outcome of ovarian tissue cryopreservation (OTCP) in patients 18 years with non-iatrogenic premature ovarian insufficiency (POI)? ...CONCLUSION: This study shows that if OTCP is performed in patients with one or …
RESEARCH QUESTION: Can ovarian reserve parameters predict the outcome of ovarian tissue cryopreservation (OTCP) in patients 18 years …
FOXL2: at the crossroads of female sex determination and ovarian function.
Benayoun BA, Dipietromaria A, Bazin C, Veitia RA. Benayoun BA, et al. Adv Exp Med Biol. 2009;665:207-26. doi: 10.1007/978-1-4419-1599-3_16. Adv Exp Med Biol. 2009. PMID: 20429427 Review.
However, no reliable genotype/phenotype correlation has been established to predict the exact impact of point mutations in the coding region of FOXL2. ...
However, no reliable genotype/phenotype correlation has been established to predict the exact impact of point mutations in the coding …
Normal palpebral anthropometric measurements in Uygur population： A cross-sectional study.
Jiang A, Zhang F, Kurbana M, Xiong K. Jiang A, et al. J Pak Med Assoc. 2023 Apr;73(4):796-799. doi: 10.47391/JPMA.6185. J Pak Med Assoc. 2023. PMID: 37051986 Free article.
OBJECTIVE: To provide a normative palpebral database for the Uygur subjects to determine norms that may contribute to the diagnosis and prognosis of eyelid diseases. METHODS: The cross-sectional study was conducted from March to May 2021 at the First People's Hospital of K …
OBJECTIVE: To provide a normative palpebral database for the Uygur subjects to determine norms that may contribute to the diagnosis and p …
Could routine forensic STR genotyping data leak personal phenotypic information?
Yang J, Chen J, Ji Q, Li K, Deng C, Kong X, Xie S, Zhan W, Mao Z, Zhang B, Yu Y, Li D, Cao Y, Ye K, Liu Q, Wu M, Chen F, Chen P. Yang J, et al. Forensic Sci Int. 2022 Jun;335:111311. doi: 10.1016/j.forsciint.2022.111311. Epub 2022 Apr 18. Forensic Sci Int. 2022. PMID: 35468577
Then, we collected 27199 individuals' STRs and geographic data from the literature to investigate the association between STRs and bio-geographic information, and predict geographic information by STRs on additional 1993 unrelated individuals. ...Although allele19 in D2S13 …
Then, we collected 27199 individuals' STRs and geographic data from the literature to investigate the association between STRs and bio-geogr …
Penta X syndrome: a case report with review of the literature.
Kassai R, Hamada I, Furuta H, Cho K, Abe K, Deng HX, Niikawa N. Kassai R, et al. Am J Med Genet. 1991 Jul 1;40(1):51-6. doi: 10.1002/ajmg.1320400110. Am J Med Genet. 1991. PMID: 1887850 Review.
She also had atrial septal defect and patent ductus arteriosus complicated by myocarditis which exacerbated the course of her congestive heart failure. Psychomotor development was retarded with opisthotonoid posture, axial hypotonia, and with a borderline abnormal EEG. ...
She also had atrial septal defect and patent ductus arteriosus complicated by myocarditis which exacerbated the course of her congest …
Single stage surgery for Blepharophimosis syndrome.
Bhattacharjee K, Bhattacharjee H, Kuri G, Shah ZT, Deori N. Bhattacharjee K, et al. Indian J Ophthalmol. 2012 May-Jun;60(3):195-201. doi: 10.4103/0301-4738.95870. Indian J Ophthalmol. 2012. PMID: 22569380 Free PMC article.
60 results