These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 35211951)

  • 21. Movement Disorders in PURA Syndrome: A Video Case Series.
    Crippa ACS; Bacheladenski EP; Rodrigues DCB; Ferreira LP; Meira AT; Franklin GL
    Mov Disord Clin Pract; 2023 Oct; 10(10):1542-1546. PubMed ID: 37868916
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
    Slezak R; Smigiel R; Rydzanicz M; Pollak A; Kosinska J; Stawinski P; Malgorzata Sasiadek M; Ploski R
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1432. PubMed ID: 32705777
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome].
    Li J; Xu J; She M; Shi P; Kong X; Wang L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov; 39(11):1228-1232. PubMed ID: 36317208
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Case report : a novel ASXL3 gene variant in a Sudanese boy.
    Wu K; Cong Y
    BMC Pediatr; 2021 Dec; 21(1):557. PubMed ID: 34886823
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
    Pinto AM; Bianciardi L; Mencarelli MA; Imperatore V; Di Marco C; Furini S; Suppiej A; Salviati L; Tenconi R; Ariani F; Mari F; Renieri A
    Brain Dev; 2016 Jun; 38(6):590-6. PubMed ID: 26754451
    [TBL] [Abstract][Full Text] [Related]  

  • 26. De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
    Nabais Sá MJ; Jensik PJ; McGee SR; Parker MJ; Lahiri N; McNeil EP; Kroes HY; Hagerman RJ; Harrison RE; Montgomery T; Splitt M; Palmer EE; Sachdev RK; Mefford HC; Scott AA; Martinez-Agosto JA; Lorenz R; Orenstein N; Berg JN; Amiel J; Heron D; Keren B; Cobben JM; Menke LA; Marco EJ; Graham JM; Pierson TM; Karimiani EG; Maroofian R; Manzini MC; Cauley ES; Colombo R; Odent S; Dubourg C; Phornphutkul C; de Brouwer APM; de Vries BBA; Vulto-vanSilfhout AT
    Genet Med; 2019 Sep; 21(9):2059-2069. PubMed ID: 30923367
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.
    Qiao Y; Bagheri H; Tang F; Badduke C; Martell S; Lewis SME; Robinson W; Connolly MB; Arbour L; Rajcan-Separovic E
    Eur J Med Genet; 2019 Feb; 62(2):103-108. PubMed ID: 29908350
    [TBL] [Abstract][Full Text] [Related]  

  • 28. De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature.
    Wang Q; Zhang J; Jiang N; Xie J; Yang J; Zhao X
    Mol Genet Genomic Med; 2022 May; 10(5):e1924. PubMed ID: 35276034
    [TBL] [Abstract][Full Text] [Related]  

  • 29. MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.
    Rocha H; Sampaio M; Rocha R; Fernandes S; Leão M
    Eur J Med Genet; 2016 Sep; 59(9):478-82. PubMed ID: 27255693
    [TBL] [Abstract][Full Text] [Related]  

  • 30. De novo mutations in PURA are associated with hypotonia and developmental delay.
    Tanaka AJ; Bai R; Cho MT; Anyane-Yeboa K; Ahimaz P; Wilson AL; Kendall F; Hay B; Moss T; Nardini M; Bauer M; Retterer K; Juusola J; Chung WK
    Cold Spring Harb Mol Case Stud; 2015 Oct; 1(1):a000356. PubMed ID: 27148565
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature.
    Pruccoli J; Graziano C; Locatelli C; Maltoni L; Sheikh Maye HA; Cordelli DM
    Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680908
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
    Heide EC; Puk O; Biskup S; Krahn A; Rauf E; Kreilkamp BAK; Paulus W; Focke NK
    Am J Med Genet A; 2021 Dec; 185(12):3838-3843. PubMed ID: 34327820
    [TBL] [Abstract][Full Text] [Related]  

  • 33. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
    Usmani MA; Ahmed ZM; Magini P; Pienkowski VM; Rasmussen KJ; Hernan R; Rasheed F; Hussain M; Shahzad M; Lanpher BC; Niu Z; Lim FY; Pippucci T; Ploski R; Kraus V; Matuszewska K; Palombo F; Kianmahd J; ; Martinez-Agosto JA; Lee H; Colao E; Motazacker MM; Brigatti KW; Puffenberger EG; Riazuddin SA; Gonzaga-Jauregui C; Chung WK; Wagner M; Schultz MJ; Seri M; Kievit AJA; Perrotti N; Wassink-Ruiter JSK; van Bokhoven H; Riazuddin S; Riazuddin S
    Am J Hum Genet; 2021 Jul; 108(7):1330-1341. PubMed ID: 34102099
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Clinical characteristics and gene analysis of GRIN2B gene related neurological developmental disorders in children].
    Tian XJ; Wang XH; Ding CH; Fang F; Dai LF; Deng J; Wang HM
    Zhonghua Er Ke Za Zhi; 2022 Mar; 60(3):232-236. PubMed ID: 35240744
    [No Abstract]   [Full Text] [Related]  

  • 35. Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report.
    Donnarumma B; Riccio MP; Terrone G; Palma M; Strisciuglio P; Scala I
    Ital J Pediatr; 2021 Jul; 47(1):148. PubMed ID: 34215294
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
    Kuechler A; Czeschik JC; Graf E; Grasshoff U; Hüffmeier U; Busa T; Beck-Woedl S; Faivre L; Rivière JB; Bader I; Koch J; Reis A; Hehr U; Rittinger O; Sperl W; Haack TB; Wieland T; Engels H; Prokisch H; Strom TM; Lüdecke HJ; Wieczorek D
    Eur J Hum Genet; 2017 Feb; 25(2):183-191. PubMed ID: 27901041
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Heterozygous c.175C>T variant in
    Noda Y; Kido J; Misumi Y; Sugawara K; Ohori S; Fujita A; Matsumoto N; Ueda M; Nakamura K
    Clin Case Rep; 2023 Sep; 11(9):e7779. PubMed ID: 37692153
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
    Stolz JR; Foote KM; Veenstra-Knol HE; Pfundt R; Ten Broeke SW; de Leeuw N; Roht L; Pajusalu S; Part R; Rebane I; Õunap K; Stark Z; Kirk EP; Lawson JA; Lunke S; Christodoulou J; Louie RJ; Rogers RC; Davis JM; Innes AM; Wei XC; Keren B; Mignot C; Lebel RR; Sperber SM; Sakonju A; Dosa N; Barge-Schaapveld DQCM; Peeters-Scholte CMPCD; Ruivenkamp CAL; van Bon BW; Kennedy J; Low KJ; Ellard S; Pang L; Junewick JJ; Mark PR; Carvill GL; Swanson GT
    Am J Hum Genet; 2021 Sep; 108(9):1692-1709. PubMed ID: 34375587
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.
    Smith JA; Holden KR; Friez MJ; Jones JR; Lyons MJ
    Am J Med Genet A; 2016 Dec; 170(12):3313-3318. PubMed ID: 27570168
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    Johannesen KM; Gardella E; Gjerulfsen CE; Bayat A; Rouhl RPW; Reijnders M; Whalen S; Keren B; Buratti J; Courtin T; Wierenga KJ; Isidor B; Piton A; Faivre L; Garde A; Moutton S; Tran-Mau-Them F; Denommé-Pichon AS; Coubes C; Larson A; Esser MJ; Appendino JP; Al-Hertani W; Gamboni B; Mampel A; Mayorga L; Orsini A; Bonuccelli A; Suppiej A; Van-Gils J; Vogt J; Damioli S; Giordano L; Moortgat S; Wirrell E; Hicks S; Kini U; Noble N; Stewart H; Asakar S; Cohen JS; Naidu SR; Collier A; Brilstra EH; Li MH; Brew C; Bigoni S; Ognibene D; Ballardini E; Ruivenkamp C; Faggioli R; Afenjar A; Rodriguez D; Bick D; Segal D; Coman D; Gunning B; Devinsky O; Demmer LA; Grebe T; Pruna D; Cursio I; Greenhalgh L; Graziano C; Singh RR; Cantalupo G; Willems M; Yoganathan S; Góes F; Leventer RJ; Colavito D; Olivotto S; Scelsa B; Andrade AV; Ratke K; Tokarz F; Khan AS; Ormieres C; Benko W; Keough K; Keros S; Hussain S; Franques A; Varsalone F; Grønborg S; Mignot C; Heron D; Nava C; Isapof A; Borlot F; Whitney R; Ronan A; Foulds N; Somorai M; Brandsema J; Helbig KL; Helbig I; Ortiz-González XR; Dubbs H; Vitobello A; Anderson M; Spadafore D; Hunt D; Møller RS; Rubboli G;
    Neurol Genet; 2021 Dec; 7(6):e613. PubMed ID: 34790866
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.