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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

136 related items for PubMed ID: 38529886

  • 1. DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
    Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quélin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean SD, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora-Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupé V.
    Genet Med; 2024 Jul; 26(7):101126. PubMed ID: 38529886
    [Abstract] [Full Text] [Related]

  • 2. Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report.
    Ilhan O, Pekcevik Y, Akbay S, Ozdemir SA, Memur S, Kanar B, Kirbiyik O, Ozer EA.
    Arch Argent Pediatr; 2018 Feb 01; 116(1):e130-e134. PubMed ID: 29333838
    [Abstract] [Full Text] [Related]

  • 3. Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.
    Seppala M, Depew MJ, Martinelli DC, Fan CM, Sharpe PT, Cobourne MT.
    J Clin Invest; 2007 Jun 01; 117(6):1575-84. PubMed ID: 17525797
    [Abstract] [Full Text] [Related]

  • 4. Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.
    Paulo SS, Fernandes-Rosa FL, Turatti W, Coeli-Lacchini FB, Martinelli CE, Nakiri GS, Moreira AC, Santos AC, de Castro M, Antonini SR.
    Clin Endocrinol (Oxf); 2015 Apr 01; 82(4):562-9. PubMed ID: 25056824
    [Abstract] [Full Text] [Related]

  • 5. SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.
    Nanni L, Ming JE, Du Y, Hall RK, Aldred M, Bankier A, Muenke M.
    Am J Med Genet; 2001 Jul 22; 102(1):1-10. PubMed ID: 11471164
    [Abstract] [Full Text] [Related]

  • 6. Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
    Roessler E, Ma Y, Ouspenskaia MV, Lacbawan F, Bendavid C, Dubourg C, Beachy PA, Muenke M.
    Hum Genet; 2009 May 22; 125(4):393-400. PubMed ID: 19184110
    [Abstract] [Full Text] [Related]

  • 7. Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.
    Ribeiro LA, Roessler E, Hu P, Pineda-Alvarez DE, Zhou N, Jones M, Chandrasekharappa S, Richieri-Costa A, Muenke M.
    Birth Defects Res A Clin Mol Teratol; 2012 Nov 22; 94(11):912-7. PubMed ID: 22847929
    [Abstract] [Full Text] [Related]

  • 8. Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
    Mouden C, Dubourg C, Carré W, Rose S, Quelin C, Akloul L, Hamdi-Rozé H, Viot G, Salhi H, Darnault P, Odent S, Dupé V, David V.
    Clin Genet; 2016 Jun 22; 89(6):659-68. PubMed ID: 26748417
    [Abstract] [Full Text] [Related]

  • 9. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
    Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M.
    Nat Genet; 1996 Nov 22; 14(3):357-60. PubMed ID: 8896572
    [Abstract] [Full Text] [Related]

  • 10. Clinical course and implications of congenital nasal pyriform stenosis and solitary median maxillary central incisor in a newborn: a case report.
    Günther L, Sari-Rieger A, Jablonka K, Rustemeyer J.
    J Med Case Rep; 2014 Jun 20; 8():215. PubMed ID: 24950703
    [Abstract] [Full Text] [Related]

  • 11. Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
    Jacquinet A, Brown L, Sawkins J, Liu P, Pugash D, Van Allen MI, Patel MS.
    Eur J Med Genet; 2018 May 20; 61(5):257-261. PubMed ID: 29278735
    [Abstract] [Full Text] [Related]

  • 12. Holoprosencephaly.
    Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V.
    Orphanet J Rare Dis; 2007 Feb 02; 2():8. PubMed ID: 17274816
    [Abstract] [Full Text] [Related]

  • 13. Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.
    Poelmans S, Kawamoto T, Cristofoli F, Politis C, Vermeesch J, Bailleul-Forestier I, Hens G, Devriendt K, Verdonck A, Carels C.
    Am J Med Genet A; 2015 Oct 02; 167A(10):2451-8. PubMed ID: 26080100
    [Abstract] [Full Text] [Related]

  • 14. Nasal pyriform aperture stenosis and the holoprosencephaly spectrum.
    Tavin E, Stecker E, Marion R.
    Int J Pediatr Otorhinolaryngol; 1994 Jan 02; 28(2-3):199-204. PubMed ID: 8157419
    [Abstract] [Full Text] [Related]

  • 15. Definition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate.
    Heyne GW, Melberg CG, Doroodchi P, Parins KF, Kietzman HW, Everson JL, Ansen-Wilson LJ, Lipinski RJ.
    PLoS One; 2015 Jan 02; 10(3):e0120517. PubMed ID: 25793997
    [Abstract] [Full Text] [Related]

  • 16. Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice.
    Hong M, Krauss RS.
    PLoS Genet; 2012 Jan 02; 8(10):e1002999. PubMed ID: 23071453
    [Abstract] [Full Text] [Related]

  • 17. Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene.
    Coutton C, Poreau B, Devillard F, Durand C, Odent S, Rozel C, Vieville G, Amblard F, Jouk PS, Satre V.
    Mol Syndromol; 2014 Jan 02; 5(1):25-31. PubMed ID: 24550762
    [Abstract] [Full Text] [Related]

  • 18. [A solitary central maxillary incisor and holoprosencephaly in siblings].
    Süss J, Pfeiffer RA, Zschiesche S, König R.
    Dtsch Zahnarztl Z; 1990 Dec 02; 45(12):785-8. PubMed ID: 2135272
    [Abstract] [Full Text] [Related]

  • 19. Solitary median maxillary central incisor syndrome associated with unique cleft palate: a rare case report.
    Holla G, Ramakrishna Y, Holla A, Munshi AK.
    Gen Dent; 2014 Dec 02; 62(2):e16-9. PubMed ID: 24598504
    [Abstract] [Full Text] [Related]

  • 20. A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
    Pineda-Alvarez DE, Solomon BD, Roessler E, Balog JZ, Hadley DW, Zein WM, Hadsall CK, Brooks BP, Muenke M.
    Am J Med Genet A; 2011 Nov 02; 155A(11):2713-20. PubMed ID: 21976454
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 7.