BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 24696032)

  • 21. Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.
    Hettiarachchi D; Panchal H; Lai PS; Dissanayake VHW
    BMC Med Genet; 2020 Aug; 21(1):164. PubMed ID: 32819291
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Optic nerve findings in CHILD syndrome.
    Knape RM; Gandhi KB; Tuli SY; Khuddus N
    J Pediatr Ophthalmol Strabismus; 2010 Sep; 47 Online():e1-3. PubMed ID: 20886807
    [TBL] [Abstract][Full Text] [Related]  

  • 23. The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.
    Seeger MA; Paller AS
    Biochim Biophys Acta; 2014 Mar; 1841(3):345-52. PubMed ID: 24060582
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma.
    Getz GI; Parag-Sharma K; Reside J; Padilla RJ; Amelio AL
    Oral Surg Oral Med Oral Pathol Oral Radiol; 2019 Jul; 128(1):60-69. PubMed ID: 31078502
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Unilateral Erythematous Lesions with Wax-like Scaling and Limb Abnormalities: A Quiz.
    Lelonek E; Matusiak Ł; Bieniek A; Szepietowski JC
    Acta Derm Venereol; 2016 Nov; 96(7):1004-1008. PubMed ID: 26832123
    [No Abstract]   [Full Text] [Related]  

  • 26. CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G.
    Tang MM; Tan WC; Surana U; Leong KF; Pramano ZAD
    Int J Dermatol; 2021 Apr; 60(4):e154-e156. PubMed ID: 33169834
    [No Abstract]   [Full Text] [Related]  

  • 27. CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India.
    Chander R; Varghese B; Jabeen M; Garg T; Jain M
    Dermatol Online J; 2010 Aug; 16(8):6. PubMed ID: 20804683
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Verrucous hyperkeratosis with predominant involvement of the left side of the body and concomitant onychodystrophy in a 17-year-old girl.
    Armina S; Heiko T; Rudolf H; Judith F; Dimitra K; Peter S
    J Dtsch Dermatol Ges; 2020 Sep; 18(9):1054-1057. PubMed ID: 32515052
    [No Abstract]   [Full Text] [Related]  

  • 29. A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing.
    Saito M; Ishiko A
    Br J Dermatol; 2008 Nov; 159(5):1204-6. PubMed ID: 18764845
    [No Abstract]   [Full Text] [Related]  

  • 30. A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
    Tan EC; Chia SY; Rafi'ee K; Lee SX; Kwek ABE; Tan SH; Ng VWL; Wei H; Koo S; Koh AL; Koh MJ
    Mol Genet Genomic Med; 2022 Jan; 10(1):e1848. PubMed ID: 34957706
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mutational spectrum of NSDHL in CHILD syndrome.
    Bornholdt D; König A; Happle R; Leveleki L; Bittar M; Danarti R; Vahlquist A; Tilgen W; Reinhold U; Poiares Baptista A; Grosshans E; Vabres P; Niiyama S; Sasaoka K; Tanaka T; Meiss AL; Treadwell PA; Lambert D; Camacho F; Grzeschik KH
    J Med Genet; 2005 Feb; 42(2):e17. PubMed ID: 15689440
    [No Abstract]   [Full Text] [Related]  

  • 32. A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin.
    Kusakabe M; Nagai M; Nakano E; Jitsukawa O; Nishigori C; Yamanishi K
    Acta Derm Venereol; 2017 Mar; 97(3):397-398. PubMed ID: 27868142
    [No Abstract]   [Full Text] [Related]  

  • 33. Multiple verruciform xanthomas in the setting of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome.
    Xu XL; Huang LM; Wang Q; Sun JF
    Pediatr Dermatol; 2015; 32(1):135-7. PubMed ID: 24147604
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Late evolution of giant verruciform xanthoma in the setting of CHILD syndrome.
    Kurban M; Abbas O; Ghosn S; Kibbi AG
    Pediatr Dermatol; 2010; 27(5):551-3. PubMed ID: 20796237
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations.
    Murase C; Takeichi T; Sugiura K; Kobayashi M; Shiomi K; Ikebuchi K; Tsutsumi Y; Akiyama M
    J Dermatol; 2018 Nov; 45(11):e303-e304. PubMed ID: 29722424
    [No Abstract]   [Full Text] [Related]  

  • 36. Hyperkeratotic Nodule on the Knee in a Patient With KID Syndrome.
    Chou P; Lee M; Elsensohn A
    Cutis; 2024 Mar; 113(3):118-124. PubMed ID: 38648589
    [No Abstract]   [Full Text] [Related]  

  • 37. Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment.
    Kallis P; Bisbee E; Garganta C; Schoch JJ
    Pediatr Dermatol; 2022 Jan; 39(1):151-152. PubMed ID: 34787337
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome].
    Jing F; Yang D; Chen T; Liang L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Dec; 33(6):878-882. PubMed ID: 27984627
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
    König A; Happle R; Fink-Puches R; Soyer HP; Bornholdt D; Engel H; Grzeschik KH
    J Am Acad Dermatol; 2002 Apr; 46(4):594-6. PubMed ID: 11907515
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Topical Cholesterol/Simvastatin Gel for the Treatment of CHILD Syndrome in an Adolescent.
    Cho SK; Ashworth LD; Goldman S
    Int J Pharm Compd; 2020; 24(5):367-369. PubMed ID: 32886633
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.