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 *

138 related articles for article (PubMed ID: 18203178)

  • 21. [Rubinstein-Taybi syndrome of broad thumbs and broad big toes with cranio-mandibulo-facial malformations and mental retardation].
    Weiland R
    Arch Kinderheilkd; 1969 May; 179(1):78-90. PubMed ID: 5799636
    [No Abstract]   [Full Text] [Related]  

  • 22. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance.
    Kagami M; Hara-Isono K; Matsubara K; Nakabayashi K; Narumi S; Fukami M; Ohkubo Y; Saitsu H; Takada S; Ogata T
    Clin Epigenetics; 2021 May; 13(1):119. PubMed ID: 34039421
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.
    Prasasya R; Grotheer KV; Siracusa LD; Bartolomei MS
    Hum Mol Genet; 2020 Sep; 29(R1):R107-R116. PubMed ID: 32592473
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.
    Kagami M; Yanagisawa A; Ota M; Matsuoka K; Nakamura A; Matsubara K; Nakabayashi K; Takada S; Fukami M; Ogata T
    Clin Epigenetics; 2019 Mar; 11(1):42. PubMed ID: 30846001
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.
    Yang X; Li M; Qi Q; Zhou X; Hao N; Lü Y; Jiang Y
    BMC Med Genomics; 2024 Aug; 17(1):222. PubMed ID: 39210340
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A case resembling broad thumb-hallux syndrome.
    Ishikawa B; Ikeda K; Nanko S; Asaka A
    Jinrui Idengaku Zasshi; 1974 Jun; 19(1):87-8. PubMed ID: 4476872
    [No Abstract]   [Full Text] [Related]  

  • 27. Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.
    Wieczorek D; Köster B; Gillessen-Kaesbach G
    Am J Med Genet; 2002 Mar; 108(3):209-13. PubMed ID: 11891687
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Triphalangeal thumbs and congenital erythroid hypoplasia: report of a case with unusual features.
    Murphy S; Lubin B
    J Pediatr; 1972 Nov; 81(5):987-9. PubMed ID: 5086730
    [No Abstract]   [Full Text] [Related]  

  • 29. [Rubinstein-Taybi syndrome with renal dysplasia. A contribution on the broad-thumb--metal retardation syndrome].
    Klingenberg M; Janneck C
    Monatsschr Kinderheilkd (1902); 1974 Jun; 122(6):362-5. PubMed ID: 4849670
    [No Abstract]   [Full Text] [Related]  

  • 30. Broad thumbs and broad great toes with facial abnormalities and mental retardation.
    Johnson CF
    J Pediatr; 1966 Jun; 68(6):942-51. PubMed ID: 5933901
    [No Abstract]   [Full Text] [Related]  

  • 31. [Rubinstein-Taybi syndrome. Apropos of 2 new cases].
    Legrand J; Maurat JC
    Arch Ophtalmol Rev Gen Ophtalmol; 1973 Oct; 33(10):641-60. PubMed ID: 4151444
    [No Abstract]   [Full Text] [Related]  

  • 32. Preaxial brachydactyly with abduction of thumbs and hallux varus: a distinct entity.
    Sharma AK; Haldar A; Phadke SR; Agarwal SS
    Am J Med Genet; 1994 Feb; 49(3):274-7. PubMed ID: 8209885
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?
    Schinzel A
    Helv Paediatr Acta; 1979 May; 34(2):141-6. PubMed ID: 457430
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
    Napoli G; Panzironi N; Traversa A; Catalanotto C; Pace V; Petrizzelli F; Giovannetti A; Lazzari S; Cogoni C; Tartaglia M; Carella M; Mazza T; Pizzuti A; Parisi C; Caputo V
    Mol Neurobiol; 2022 Aug; 59(8):4825-4838. PubMed ID: 35639255
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mental retardation with absent fifth fingernail and terminal phalanx.
    Coffin GS; Siris E
    Am J Dis Child; 1970 May; 119(5):433-9. PubMed ID: 5442442
    [No Abstract]   [Full Text] [Related]  

  • 36. Short broad thumbs and mental retardation in two brothers without facial dysmorphia.
    Meinecke P
    J Clin Dysmorphol; 1983; 1(4):28-31. PubMed ID: 6590787
    [No Abstract]   [Full Text] [Related]  

  • 37. Broad thumbs and halluces with deafness: a patient with Keipert syndrome.
    Reardon W; Hall CM
    Am J Med Genet A; 2003 Apr; 118A(1):86-9. PubMed ID: 12605449
    [TBL] [Abstract][Full Text] [Related]  

  • 38. BROAD THUMBS AND TOES, AND UNUSUAL FACIAL FEATURES; A PROBABLE MENTAL RETARDATION SYNDROME.
    TAYBI H; RUBINSTEIN JH
    Am J Roentgenol Radium Ther Nucl Med; 1965 Feb; 93():362-6. PubMed ID: 14258284
    [No Abstract]   [Full Text] [Related]  

  • 39. Mental retardation with facial abnormalities, broad thumbs and toes and unusual dermatoglyphics.
    Davison BC; Ellis HL; Kuzemko JA; Roberts DF
    Dev Med Child Neurol; 1967 Oct; 9(5):588-93. PubMed ID: 5587707
    [No Abstract]   [Full Text] [Related]  

  • 40. Mental retardation with absent fifth fingernail and terminal phalanx.
    Bartsocas CS; Tsiantos AK
    Am J Dis Child; 1970 Nov; 120(5):493-4. PubMed ID: 5474762
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.