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 *

126 related articles for article (PubMed ID: 29427453)

  • 1. Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.
    Dentici ML; Terracciano A; Bellacchio E; Capolino R; Novelli A; Digilio MC; Dallapiccola B
    Clin Genet; 2018 Jun; 93(6):1223-1228. PubMed ID: 29427453
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
    Isrie M; Breuss M; Tian G; Hansen AH; Cristofoli F; Morandell J; Kupchinsky ZA; Sifrim A; Rodriguez-Rodriguez CM; Dapena EP; Doonanco K; Leonard N; Tinsa F; Moortgat S; Ulucan H; Koparir E; Karaca E; Katsanis N; Marton V; Vermeesch JR; Davis EE; Cowan NJ; Keays DA; Van Esch H
    Am J Hum Genet; 2015 Dec; 97(6):790-800. PubMed ID: 26637975
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2.
    Feng J; Lan X; Shen J; Song X; Tang X; Xu W; Ren X; Zhang H; Yu G; Wu S
    Mol Genet Genomic Med; 2020 Feb; 8(2):e1096. PubMed ID: 31903734
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type.
    Chun Fang G; Kaiwei D; Lingkong Z; Xuwei T
    Mol Genet Genomic Med; 2022 Sep; 10(9):e2003. PubMed ID: 35747986
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical variability of TUBB-associated disorders: Diagnosis through reanalysis.
    Li D; Shen KM; Zackai EH; Bhoj EJ
    Am J Med Genet A; 2020 Dec; 182(12):3035-3039. PubMed ID: 33016642
    [TBL] [Abstract][Full Text] [Related]  

  • 6. TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
    Sferra A; Petrini S; Bellacchio E; Nicita F; Scibelli F; Dentici ML; Alfieri P; Cestra G; Bertini ES; Zanni G
    Int J Mol Sci; 2020 Feb; 21(4):. PubMed ID: 32085672
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Self-healing congenital generalized skin creases: Michelin tire baby syndrome.
    Nomura Y; Ota M; Tochimaru H
    J Am Acad Dermatol; 2010 Dec; 63(6):1110-1. PubMed ID: 21093673
    [No Abstract]   [Full Text] [Related]  

  • 8. Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".
    Wouters L; Rodriguez Rodriguez CM; Dapena EP; Poorten VV; Devriendt K; Van Esch H
    Eur J Med Genet; 2011; 54(3):236-40. PubMed ID: 21262397
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Michelin tire baby syndrome: a review of the literature and a proposal for diagnostic criteria with adoption of the name circumferential skin folds syndrome.
    Rothman IL
    Pediatr Dermatol; 2014; 31(6):659-63. PubMed ID: 25424205
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Case of familial Michelin tire baby syndrome.
    Kato M; Shimizu A; Ishikawa O
    J Dermatol; 2015 May; 42(5):534-6. PubMed ID: 25726714
    [No Abstract]   [Full Text] [Related]  

  • 11. Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.
    Watanabe K; Nakashima M; Kumada S; Mashimo H; Enokizono M; Yamada K; Kato M; Saitsu H
    J Hum Genet; 2021 Dec; 66(12):1193-1197. PubMed ID: 34211110
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Association between Michelin tire baby syndrome and congenital panhyopituitarism in an Iranian girl.
    Haghshenas Z; Tajziehchi L; Ghavami F
    Arch Iran Med; 2014 Aug; 17(8):585-6. PubMed ID: 25065283
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome.
    Ulucan H; Koparir E; Koparir A; Karaca E; Emre R; Gezdirici A; Yosunkaya E; Seven M; Ozen M; Yuksel A
    Clin Dysmorphol; 2013 Apr; 22(2):87-90. PubMed ID: 23324645
    [No Abstract]   [Full Text] [Related]  

  • 14. Michelin tire baby syndrome--a case report and literature review.
    Farooqi GA; Mulla SA; Ahmad M
    J Pak Med Assoc; 2010 Sep; 60(9):777-9. PubMed ID: 21381593
    [TBL] [Abstract][Full Text] [Related]  

  • 15. MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome.
    Thues C; Valadas JS; Deaulmerie L; Geens A; Chouhan AK; Duran-Romaña R; Schymkowitz J; Rousseau F; Bartusel M; Rehimi R; Rada-Iglesias A; Verstreken P; Van Esch H
    Sci Rep; 2021 Mar; 11(1):4976. PubMed ID: 33654163
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Generalized smooth muscle hamartoma with multiple congenital anomalies without the "Michelin tire baby" phenotype.
    Janicke EC; Nazareth MR; Rothman IL
    Pediatr Dermatol; 2014; 31(6):731-3. PubMed ID: 24383769
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Michelin tire baby syndrome: a case report.
    Uzair M; Butt G; Khurshid K
    Int J Dermatol; 2015 Nov; 54(11):e476-7. PubMed ID: 26227104
    [No Abstract]   [Full Text] [Related]  

  • 18. Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case report.
    Kondoh T; Eguchi J; Hamasaki Y; Doi T; Kinoshita E; Matsumoto T; Abe K; Ohtani Y; Moriuchi H
    Am J Med Genet A; 2004 Mar; 125A(3):290-2. PubMed ID: 14994239
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Familial Michelin tire baby syndrome.
    Hayashi M; Wataya-Kaneda M; Koguchi-Yoshioka H; Arase N; Kubo T; Nakano H; Fujimoto M
    J Dermatol; 2022 Jul; 49(7):e219-e220. PubMed ID: 35277884
    [No Abstract]   [Full Text] [Related]  

  • 20. Michelin Baby Associated With Facial Abnormalities.
    Noguera-Morel L; Andrés-Ramos I; Hernández-Martín A; Torrelo A
    Actas Dermosifiliogr; 2016; 107(6):530-1. PubMed ID: 26976497
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.