BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 31313512)

  • 81. Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.
    Goyal M; Gupta A; Choudhary A; Bhandari A
    Indian J Pediatr; 2019 Feb; 86(2):183-185. PubMed ID: 30209734
    [TBL] [Abstract][Full Text] [Related]  

  • 82. Unusual bone dysplasia featuring severe platyspondyly and vertebral "coronal cleft" in infancy, and changes of metaphyseal chondrodysplasia in childhood.
    Currarino G
    Pediatr Radiol; 1986; 16(5):433-6. PubMed ID: 3748653
    [TBL] [Abstract][Full Text] [Related]  

  • 83. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
    Girisha KM; von Elsner L; Neethukrishna K; Muranjan M; Shukla A; Bhavani GS; Nishimura G; Kutsche K; Mortier G
    Hum Mutat; 2019 Mar; 40(3):299-309. PubMed ID: 30488656
    [TBL] [Abstract][Full Text] [Related]  

  • 84. Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder.
    Ben-Omran T; Lakhani S; Almureikhi M; Ali R; Takahashi A; Miyake N; Matsumoto N; Ikegawa S; Superti-Furga A; Unger S
    Am J Med Genet A; 2014 Sep; 164A(9):2147-52. PubMed ID: 24975242
    [TBL] [Abstract][Full Text] [Related]  

  • 85. Brachyolmia: a report of two cases.
    Ikegawa S; Nakamura K; Nakamura S; Nagano A
    J Pediatr Orthop; 1995; 15(1):105-7. PubMed ID: 7883917
    [TBL] [Abstract][Full Text] [Related]  

  • 86. A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
    Zhang C; Du C; Ye J; Ye F; Wang R; Luo X; Liang Y
    BMC Med Genet; 2020 May; 21(1):117. PubMed ID: 32471379
    [TBL] [Abstract][Full Text] [Related]  

  • 87. Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads.
    Hernández A; Nazara Z; Reynoso MC; Lizcano-Gil LA; Lopez R; Sarralde A; Fragoso R
    Genet Couns; 1996; 7(3):187-91. PubMed ID: 8897039
    [TBL] [Abstract][Full Text] [Related]  

  • 88. Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.
    Chitayat D; Gruber H; Mullen BJ; Pauzner D; Costa T; Lachman R; Rimoin DL
    Am J Med Genet; 1993 Aug; 47(2):272-7. PubMed ID: 8213919
    [TBL] [Abstract][Full Text] [Related]  

  • 89. Inactivating PAPSS2 mutations in a patient with premature pubarche.
    Noordam C; Dhir V; McNelis JC; Schlereth F; Hanley NA; Krone N; Smeitink JA; Smeets R; Sweep FC; Claahsen-van der Grinten HL; Arlt W
    N Engl J Med; 2009 May; 360(22):2310-8. PubMed ID: 19474428
    [TBL] [Abstract][Full Text] [Related]  

  • 90. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
    Melkoniemi M; Brunner HG; Manouvrier S; Hennekam R; Superti-Furga A; Kääriäinen H; Pauli RM; van Essen T; Warman ML; Bonaventure J; Miny P; Ala-Kokko L
    Am J Hum Genet; 2000 Feb; 66(2):368-77. PubMed ID: 10677296
    [TBL] [Abstract][Full Text] [Related]  

  • 91. Spondyloepimetaphyseal dysplasia (SEMD) Shohat type.
    Figuera LE; Ramírez-Dueñas ML; Gallegos-Arreola MP; Cantú JM
    Am J Med Genet; 1994 Jul; 51(3):213-5. PubMed ID: 8074146
    [TBL] [Abstract][Full Text] [Related]  

  • 92. Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects.
    Fryns JP; Lorenzetti ME; Maroteaux P; Van den Berghe H
    Am J Med Genet; 1996 Jan; 61(2):164-7. PubMed ID: 8669445
    [TBL] [Abstract][Full Text] [Related]  

  • 93. Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.
    Kausar M; Mäkitie RE; Toiviainen-Salo S; Ignatius J; Anees M; Mäkitie O
    Eur J Med Genet; 2019 Nov; 62(11):103573. PubMed ID: 30423444
    [TBL] [Abstract][Full Text] [Related]  

  • 94. CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
    Otaify GA; Elhossini RM; Abdel-Ghafar SF; Sayed IM; Abdel-Salam GMH; Aglan MS; Abdel-Hamid MS
    Am J Med Genet A; 2023 Aug; 191(8):2100-2112. PubMed ID: 37183573
    [TBL] [Abstract][Full Text] [Related]  

  • 95. A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.
    Kuroda Y; Murakami H; Enomoto Y; Tsurusaki Y; Takahashi K; Mitsuzuka K; Ishimoto H; Nishimura G; Kurosawa K
    Clin Genet; 2019 Jun; 95(6):713-717. PubMed ID: 30847897
    [TBL] [Abstract][Full Text] [Related]  

  • 96. Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.
    Duz MB; Topak A
    Clin Dysmorphol; 2020 Oct; 29(4):167-172. PubMed ID: 32639237
    [TBL] [Abstract][Full Text] [Related]  

  • 97. Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
    Zhang W; Yao Z; Guo R; Cao J; Li W; Hao C; Zhang X
    Orphanet J Rare Dis; 2023 Nov; 18(1):371. PubMed ID: 38037133
    [TBL] [Abstract][Full Text] [Related]  

  • 98. X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred.
    MacKenzie JJ; Fitzpatrick J; Babyn P; Ferrero GB; Ballabio A; Billingsley G; Bulman DE; Strasberg P; Ray PN; Costa T
    J Med Genet; 1996 Oct; 33(10):823-8. PubMed ID: 8933334
    [TBL] [Abstract][Full Text] [Related]  

  • 99. Intrafamilial variability of XYLT2-related spondyloocular syndrome.
    Guleray N; Simsek Kiper PO; Utine GE; Boduroglu K; Alikasifoglu M
    Eur J Med Genet; 2019 Nov; 62(11):103585. PubMed ID: 30496831
    [TBL] [Abstract][Full Text] [Related]  

  • 100. Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features.
    Langer LO; Wolfson BJ; Scott CI; Reid CS; Schidlow DV; Millar EA; Borns PF; Lubicky JP; Carpenter BL
    Am J Med Genet; 1993 Feb; 45(4):488-500. PubMed ID: 8465857
    [TBL] [Abstract][Full Text] [Related]  

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