BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 35451546)

  • 1. Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype.
    Abdalla E; Alawi M; Meinecke P; Kutsche K; Harms FL
    Am J Med Genet A; 2022 Aug; 188(8):2448-2453. PubMed ID: 35451546
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.
    Inoue Y; Sakamoto Y; Sugimoto M; Inagaki H; Boda H; Miyata M; Kato H; Kurahashi H; Okumoto T
    Cleft Palate Craniofac J; 2018 Aug; 55(7):1026-1029. PubMed ID: 28140668
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.
    Lansdon LA; Bernabe HV; Nidey N; Standley J; Schnieders MJ; Murray JC
    J Dent Res; 2017 Oct; 96(11):1339-1345. PubMed ID: 28825856
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
    Chen CP; Chen CY; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Yang CW; Chen LF; Wang W
    Taiwan J Obstet Gynecol; 2017 Dec; 56(6):821-826. PubMed ID: 29241927
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
    Harel T; Griffin JN; Arbogast T; Monroe TO; Palombo F; Martinelli M; Seri M; Pippucci T; Elpeleg O; Katsanis N
    Hum Mol Genet; 2020 Jun; 29(9):1489-1497. PubMed ID: 32307552
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?
    Fernández Hernández L; Alcántara Ortigoza MA; Ramos Angeles SE; González-Del Angel A
    Cytogenet Genome Res; 2021; 161(12):556-563. PubMed ID: 35021179
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Roberts Syndrome With a Bilateral Cleft Lip and Palate.
    Máximo G; Raposo-Amaral CA; Paez ABA; Raposo-Amaral CE
    J Craniofac Surg; 2021 Jan-Feb 01; 32(1):e23-e25. PubMed ID: 32833836
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.
    Lawson C; Blakemore KJ; Ryan R; Hooper JE; Tsimis M; Jelin A
    Am J Med Genet A; 2020 Jul; 182(7):1812-1814. PubMed ID: 32441374
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation.
    Tütüncüoglu S; Ozkinay F; Genel F; Uran N; Ozgür T
    Clin Genet; 1996 Apr; 49(4):220-2. PubMed ID: 8828990
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.
    Yoshida K; Hayashi R; Fujita H; Kubota M; Kondo M; Shimomura Y; Niizeki H
    J Dermatol; 2015 Jul; 42(7):715-9. PubMed ID: 25913853
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.
    Pengelly RJ; Upstill-Goddard R; Arias L; Martinez J; Gibson J; Knut M; Collins AL; Ennis S; Collins A; Briceno I
    Clin Genet; 2015 Nov; 88(5):441-9. PubMed ID: 25441681
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
    Gangfuß A; Yigit G; Altmüller J; Nürnberg P; Czeschik JC; Wollnik B; Bögershausen N; Burfeind P; Wieczorek D; Kaiser F; Roos A; Kölbel H; Schara-Schmidt U; Kuechler A
    Am J Med Genet A; 2021 Apr; 185(4):1216-1221. PubMed ID: 33427397
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Aicardi syndrome with holoprosencephaly and cleft lip and palate.
    Sato N; Matsuishi T; Utsunomiya H; Yamashita Y; Horikoshi T; Okudera T; Hashimoto T
    Pediatr Neurol; 1987; 3(2):114-6. PubMed ID: 3508052
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Bilateral cleft lip and palate, hypertelorism with agenesis of corpus callosum.
    Balaji SM
    Indian J Dent Res; 2016; 27(1):100-2. PubMed ID: 27054869
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 12q interstitial deletion with bilateral cleft lip and palate: case report and literature review.
    Yamanishi T; Nishio J; Miya S; Okamoto N; Takahashi A; Toribe Y; Mukai T; Kobayashi C
    Cleft Palate Craniofac J; 2008 May; 45(3):325-8. PubMed ID: 18452363
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.
    Lipska BS; Brzeskwiniewicz M; Wierzba J; Morzuchi L; Piotrowski A; Limon J
    Genet Couns; 2011; 22(4):353-63. PubMed ID: 22303795
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?
    Schulze BR; Tariverdian G; Komposch G; Stellzig A
    Am J Med Genet; 2001 Apr; 99(4):280-5. PubMed ID: 11251993
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: review of distal 7q deletions.
    Rush ET; Stevens JM; Sanger WG; Olney AH
    Am J Med Genet A; 2013 Jul; 161A(7):1726-32. PubMed ID: 23696251
    [TBL] [Abstract][Full Text] [Related]  

  • 19. MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.
    Louw JJ; Corveleyn A; Jia Y; Hens G; Gewillig M; Devriendt K
    Am J Med Genet A; 2015 May; 167A(5):1142-6. PubMed ID: 25712757
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs.
    Young ID; Macrae WG; Hughes HE; Crawford JS
    J Med Genet; 1982 Oct; 19(5):332-6. PubMed ID: 7143385
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.