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 *

137 related articles for article (PubMed ID: 34930369)

  • 21. Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.
    Reish O; Huber C; Altarescu G; Chapman-Shimshoni D; Levy-Lahad E; Renbaum P; Mashevich M; Munnich A; Cormier-Daire V
    Am J Med Genet A; 2010 Sep; 152A(9):2230-5. PubMed ID: 20683993
    [TBL] [Abstract][Full Text] [Related]  

  • 22. In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.
    Hoppman-Chaney N; Jang JS; Jen J; Babovic-Vuksanovic D; Hodge JC
    Am J Med Genet A; 2012 Jan; 158A(1):193-8. PubMed ID: 22106055
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Familial Gordon syndrome associated with a PIEZO2 mutation.
    Alisch F; Weichert A; Kalache K; Paradiso V; Longardt AC; Dame C; Hoffmann K; Horn D
    Am J Med Genet A; 2017 Jan; 173(1):254-259. PubMed ID: 27714920
    [TBL] [Abstract][Full Text] [Related]  

  • 24. MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
    Yamamoto T; Shimojima K; Ondo Y; Shimakawa S; Okamoto N
    Am J Med Genet A; 2017 May; 173(5):1264-1269. PubMed ID: 28371282
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent.
    Hayashi S; Yagi M; Morisaki I; Inazawa J
    J Hum Genet; 2015 Apr; 60(4):203-6. PubMed ID: 25608831
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21.
    Ounap K; Ilus T; Laidre P; Uibo O; Tammur P; Bartsch O
    Am J Med Genet A; 2005 Sep; 137A(3):323-7. PubMed ID: 16094674
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.
    Errichiello E; Novara F; Cremante A; Verri A; Galli J; Fazzi E; Bellotti D; Losa L; Cisternino M; Zuffardi O
    Mol Cytogenet; 2016; 9(1):21. PubMed ID: 27625702
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Bifid Uvula-An Enigma.
    Prasad P; Khalil E; Desai VB; Varma SR; Gunasekaran L; Kumar K; Pradeep S
    J Pharm Bioallied Sci; 2023 Jul; 15(Suppl 1):S806-S809. PubMed ID: 37654280
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Cloning and expression of the TALE superclass homeobox Meis2 gene during zebrafish embryonic development.
    Biemar F; Devos N; Martial JA; Driever W; Peers B
    Mech Dev; 2001 Dec; 109(2):427-31. PubMed ID: 11731263
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2.
    Lumaka A; Van Hole C; Casteels I; Ortibus E; De Wolf V; Vermeesch JR; Lukusa T; Devriendt K
    Am J Med Genet A; 2012 Jun; 158A(6):1381-7. PubMed ID: 22581619
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Investigation of NRXN1 deletions: clinical and molecular characterization.
    Dabell MP; Rosenfeld JA; Bader P; Escobar LF; El-Khechen D; Vallee SE; Dinulos MB; Curry C; Fisher J; Tervo R; Hannibal MC; Siefkas K; Wyatt PR; Hughes L; Smith R; Ellingwood S; Lacassie Y; Stroud T; Farrell SA; Sanchez-Lara PA; Randolph LM; Niyazov D; Stevens CA; Schoonveld C; Skidmore D; MacKay S; Miles JH; Moodley M; Huillet A; Neill NJ; Ellison JW; Ballif BC; Shaffer LG
    Am J Med Genet A; 2013 Apr; 161A(4):717-31. PubMed ID: 23495017
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Expression of the homeodomain transcription factor Meis2 in the embryonic and postnatal retina.
    Bumsted-O'Brien KM; Hendrickson A; Haverkamp S; Ashery-Padan R; Schulte D
    J Comp Neurol; 2007 Nov; 505(1):58-72. PubMed ID: 17729288
    [TBL] [Abstract][Full Text] [Related]  

  • 33. De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.
    Al Dhaibani MA; Allingham-Hawkins D; El-Hattab AW
    BMC Med Genet; 2017 Oct; 18(1):118. PubMed ID: 29061174
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report.
    Kalayinia S; Shahani T; Biglari A; Maleki M; Rokni-Zadeh H; Razavi Z; Mahdieh N
    J Clin Lab Anal; 2019 Feb; 33(2):e22663. PubMed ID: 30259573
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.
    Qi Z; Jeng LJ; Slavotinek A; Yu J
    BMC Med Genomics; 2015 Jul; 8():38. PubMed ID: 26174853
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Paternal Low-Level Mosaicism-Caused
    Qian Y; Liu J; Yang Y; Chen M; Jin C; Chen P; Lei Y; Pan H; Dong M
    Front Genet; 2019; 10():630. PubMed ID: 31333717
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
    Jongmans MC; Hoefsloot LH; van der Donk KP; Admiraal RJ; Magee A; van de Laar I; Hendriks Y; Verheij JB; Walpole I; Brunner HG; van Ravenswaaij CM
    Am J Med Genet A; 2008 Jan; 146A(1):43-50. PubMed ID: 18074359
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome.
    Shimada S; Maegaki Y; Osawa M; Yamamoto T
    Am J Med Genet A; 2014 Feb; 164A(2):415-20. PubMed ID: 24311364
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
    Rosenfeld JA; Drautz JM; Clericuzio CL; Cushing T; Raskin S; Martin J; Tervo RC; Pitarque JA; Nowak DM; Karolak JA; Lamb AN; Schultz RA; Ballif BC; Bejjani BA; Gajecka M; Shaffer LG
    Am J Med Genet A; 2011 Aug; 155A(8):1906-16. PubMed ID: 21744490
    [TBL] [Abstract][Full Text] [Related]  

  • 40. The Gene Regulatory Network of Lens Induction Is Wired through Meis-Dependent Shadow Enhancers of Pax6.
    Antosova B; Smolikova J; Klimova L; Lachova J; Bendova M; Kozmikova I; Machon O; Kozmik Z
    PLoS Genet; 2016 Dec; 12(12):e1006441. PubMed ID: 27918583
    [TBL] [Abstract][Full Text] [Related]  

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