BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 38647663)

  • 21. Long-term follow-up of Marshall-Smith syndrome: report of one case.
    Hou JW
    Acta Paediatr Taiwan; 2004; 45(4):232-5. PubMed ID: 15624371
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Marshall-Smith syndrome: new aspects.
    Roodhooft AM; Van Acker KJ; Van Thienen MN; Martin JJ; Ceuterick C
    Neuropediatrics; 1988 Nov; 19(4):179-82. PubMed ID: 3205374
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Marshall-Smith syndrome: the expanding phenotype.
    Williams DK; Carlton DR; Green SH; Pearman K; Cole TR
    J Med Genet; 1997 Oct; 34(10):842-5. PubMed ID: 9350818
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case.
    Priolo M; Grosso E; Mammì C; Labate C; Naretto VG; Vacalebre C; Caridi P; Laganà C
    Gene; 2012 Dec; 511(1):103-5. PubMed ID: 22982744
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
    Klaassens M; Morrogh D; Rosser EM; Jaffer F; Vreeburg M; Bok LA; Segboer T; van Belzen M; Quinlivan RM; Kumar A; Hurst JA; Scott RH
    Eur J Hum Genet; 2015 May; 23(5):610-5. PubMed ID: 25118028
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Variants in nuclear factor I genes influence growth and development.
    Zenker M; Bunt J; Schanze I; Schanze D; Piper M; Priolo M; Gerkes EH; Gronostajski RM; Richards LJ; Vogt J; Wessels MW; Hennekam RC
    Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):611-626. PubMed ID: 31730271
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mutations in
    Lu Y; Chong PF; Kira R; Seto T; Ondo Y; Shimojima K; Yamamoto T
    J Pediatr Genet; 2017 Dec; 6(4):234-237. PubMed ID: 29142766
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Maxillomandibular distraction osteogenesis for Marshall-Smith syndrome.
    Mitsukawa N; Satoh K
    J Plast Reconstr Aesthet Surg; 2010 Aug; 63(8):e611-4. PubMed ID: 20303330
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
    Yoneda Y; Saitsu H; Touyama M; Makita Y; Miyamoto A; Hamada K; Kurotaki N; Tomita H; Nishiyama K; Tsurusaki Y; Doi H; Miyake N; Ogata K; Naritomi K; Matsumoto N
    J Hum Genet; 2012 Mar; 57(3):207-11. PubMed ID: 22301465
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Long survival of a patient with Marshall-Smith syndrome without respiratory complications.
    Sperli D; Concolino D; Barbato C; Strisciuglio P; Andria G
    J Med Genet; 1993 Oct; 30(10):877-9. PubMed ID: 8230168
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Difficult airway in a patient with Marshall-Smith syndrome.
    Antila H; Laitio T; Aantaa R; Silvoniemi P; Pakkanen A
    Paediatr Anaesth; 1998; 8(5):429-32. PubMed ID: 9742541
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Neonatal death in Marshall-Smith syndrome.
    Chatel C; Maazoul F; Sigaudy S; Fredouille C; Ayme S; Philip N
    Genet Couns; 1998; 9(1):15-8. PubMed ID: 9555581
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.
    Sihombing NRB; Winarni TI; van Bokhoven H; van der Burgt I; de Leeuw N; Faradz SMH
    Am J Med Genet A; 2020 Nov; 182(11):2731-2736. PubMed ID: 32945093
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review].
    Lei HH; Liu LL; Wang XL; Tie XC; Tian N; Ji Y; Yang Y
    Zhonghua Er Ke Za Zhi; 2022 Sep; 60(9):935-939. PubMed ID: 36038305
    [No Abstract]   [Full Text] [Related]  

  • 35. Further delineation of Malan syndrome.
    Priolo M; Schanze D; Tatton-Brown K; Mulder PA; Tenorio J; Kooblall K; Acero IH; Alkuraya FS; Arias P; Bernardini L; Bijlsma EK; Cole T; Coubes C; Dapia I; Davies S; Di Donato N; Elcioglu NH; Fahrner JA; Foster A; González NG; Huber I; Iascone M; Kaiser AS; Kamath A; Liebelt J; Lynch SA; Maas SM; Mammì C; Mathijssen IB; McKee S; Menke LA; Mirzaa GM; Montgomery T; Neubauer D; Neumann TE; Pintomalli L; Pisanti MA; Plomp AS; Price S; Salter C; Santos-Simarro F; Sarda P; Segovia M; Shaw-Smith C; Smithson S; Suri M; Valdez RM; Van Haeringen A; Van Hagen JM; Zollino M; Lapunzina P; Thakker RV; Zenker M; Hennekam RC
    Hum Mutat; 2018 Sep; 39(9):1226-1237. PubMed ID: 29897170
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.
    Bayram N; Kaçar Bayram A; Daimagüler HS; Dafsari HS; Bamborschke D; Uyanik G; Erdogan M; Özsaygılı C; Pangal E; Yuvaci İ; Doğanay S; Gümüş H; Per H; Jungbluth H; Çırak S
    Eur J Ophthalmol; 2022 May; 32(3):NP92-NP97. PubMed ID: 34075802
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome.
    Deshpande C; Forrest M; Russell-Eggitt I; Hall CM; Mehta R; Paterson J
    Clin Dysmorphol; 2006 Apr; 15(2):111-3. PubMed ID: 16531739
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome.
    Bupp C; Junewick J; Hess JL
    Clin Dysmorphol; 2020 Oct; 29(4):214-216. PubMed ID: 32701632
    [No Abstract]   [Full Text] [Related]  

  • 39. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
    Agochukwu NB; Solomon BD; Muenke M
    Childs Nerv Syst; 2012 Sep; 28(9):1447-63. PubMed ID: 22872262
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations.
    Johnson JP; Carey JC; Glassy FJ; Paglieroni T; Lipson MH
    Pediatrics; 1983 Feb; 71(2):219-23. PubMed ID: 6823423
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.