BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

101 related articles for article (PubMed ID: 27640920)

  • 21. [Advances in clinical and molecular genetics of congenital cranial dysinnervation disorders].
    Zhao J; Zhao KX; Tian YM
    Zhonghua Yan Ke Za Zhi; 2007 Jan; 43(1):82-6. PubMed ID: 17442174
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism.
    Yalcin-Cakmakli G; Olgiati S; Quadri M; Breedveld GJ; Cortelli P; Bonifati V; Elibol B
    Parkinsonism Relat Disord; 2014 Nov; 20(11):1248-52. PubMed ID: 25085748
    [TBL] [Abstract][Full Text] [Related]  

  • 23. COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
    Ramzan K; Imtiaz F; Taibah K; Alnufiee S; Akhtar M; Al-Hazzaa SA; Al-Owain M
    Int J Pediatr Otorhinolaryngol; 2014 Mar; 78(3):427-32. PubMed ID: 24398087
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy.
    Atay Z; Bereket A; Turan S; Haliloglu B; Memisoglu A; Khayat M; Shalev SA; Spiegel R
    Gene; 2013 Feb; 515(1):197-9. PubMed ID: 23235116
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Congenital central paralysis of the facial nerve in a newborn infant].
    Rudelić I; Zuzek A; Druzetić K; Rudelić E
    Jugosl Ginekol Opstet; 1983; 23(1-2):37-40. PubMed ID: 6645616
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.
    Mayer AK; Mahajnah M; Zobor D; Bonin M; Sharkia R; Wissinger B
    Mol Vis; 2015; 21():306-15. PubMed ID: 25814828
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Congenital facial palsy].
    Zhu YH; Han WJ
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Oct; 54(10):787-791. PubMed ID: 31606995
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.
    Uzumcu A; Karaman B; Toksoy G; Uyguner ZO; Candan S; Eris H; Tatli B; Geckinli B; Yuksel A; Kayserili H; Basaran S
    Eur J Med Genet; 2009; 52(5):315-20. PubMed ID: 19460469
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment.
    Qu R; Sang Q; Xu Y; Feng R; Jin L; He L; Wang L
    Int J Pediatr Otorhinolaryngol; 2016 May; 84():43-7. PubMed ID: 27063751
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.
    Moortgat S; Benoit V; Deprez M; Charon A; Maystadt I
    Eur J Med Genet; 2014 Apr; 57(5):212-5. PubMed ID: 24613578
    [TBL] [Abstract][Full Text] [Related]  

  • 31. New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.
    Fong K; Akdeniz S; Isi H; Taskesen M; McGrath JA; Lai-Cheong JE
    Clin Exp Dermatol; 2011 Jun; 36(4):412-5. PubMed ID: 21564178
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
    Cangul H; Morgan NV; Forman JR; Saglam H; Aycan Z; Yakut T; Gulten T; Tarim O; Bober E; Cesur Y; Kirby GA; Pasha S; Karkucak M; Eren E; Cetinkaya S; Bas V; Demir K; Yuca SA; Meyer E; Kendall M; Hogler W; Barrett TG; Maher ER
    Clin Endocrinol (Oxf); 2010 Nov; 73(5):671-7. PubMed ID: 20718767
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders.
    Ingram JL; Stodgell CJ; Hyman SL; Figlewicz DA; Weitkamp LR; Rodier PM
    Teratology; 2000 Dec; 62(6):393-405. PubMed ID: 11091361
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Congenital hereditary paresis of ramus marginalis nervus facialis in five generations.
    Hölmich LR; Medgyesi S
    Ann Plast Surg; 1994 Jul; 33(1):96-9. PubMed ID: 7944209
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Fitness Assays Reveal Incomplete Functional Redundancy of the HoxA1 and HoxB1 Paralogs of Mice.
    Ruff JS; Saffarini RB; Ramoz LL; Morrison LC; Baker S; Laverty SM; Tvrdik P; Potts WK
    Genetics; 2015 Oct; 201(2):727-36. PubMed ID: 26447130
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family.
    Cangül H; Doğan M; Üstek D
    J Clin Res Pediatr Endocrinol; 2015 Dec; 7(4):323-8. PubMed ID: 26777044
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
    Tenney AP; Di Gioia SA; Webb BD; Chan WM; de Boer E; Garnai SJ; Barry BJ; Ray T; Kosicki M; Robson CD; Zhang Z; Collins TE; Gelber A; Pratt BM; Fujiwara Y; Varshney A; Lek M; Warburton PE; Van Ryzin C; Lehky TJ; Zalewski C; King KA; Brewer CC; Thurm A; Snow J; Facio FM; Narisu N; Bonnycastle LL; Swift A; Chines PS; Bell JL; Mohan S; Whitman MC; Staffieri SE; Elder JE; Demer JL; Torres A; Rachid E; Al-Haddad C; Boustany RM; Mackey DA; Brady AF; Fenollar-Cortés M; Fradin M; Kleefstra T; Padberg GW; Raskin S; Sato MT; Orkin SH; Parker SCJ; Hadlock TA; Vissers LELM; van Bokhoven H; Jabs EW; Collins FS; Pennacchio LA; Manoli I; Engle EC
    Nat Genet; 2023 Jul; 55(7):1149-1163. PubMed ID: 37386251
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.
    El-Haig WM; Jakobsson C; Favez T; Schorderet DF; Abouzeid H
    Br J Ophthalmol; 2014 Dec; 98(12):1718-23. PubMed ID: 25091951
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Targeted disruption of the Hoxb-2 locus in mice interferes with expression of Hoxb-1 and Hoxb-4.
    Barrow JR; Capecchi MR
    Development; 1996 Dec; 122(12):3817-28. PubMed ID: 9012503
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Cranial nerve defects in congenital facial palsy.
    Carr MM; Ross DA; Zuker RM
    J Otolaryngol; 1997 Apr; 26(2):80-7. PubMed ID: 9106081
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.