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 *

177 related articles for article (PubMed ID: 16097007)

  • 21. Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.
    Elizabeth MSM; Verkerk AJMH; Hokken-Koelega ACS; Verlouw JAM; Argente J; Pfaeffle R; Neggers SJCMM; Visser JA; de Graaff LCG
    Pituitary; 2021 Apr; 24(2):229-241. PubMed ID: 33184694
    [TBL] [Abstract][Full Text] [Related]  

  • 22. "De novo" duplication Xq23-->Xq26 of paternal origin in a girl with a mildly affected phenotype.
    Garcia-Heras J; Martin JA; Day DW; Scacheri P; Witchel SF
    Am J Med Genet; 1997 Jun; 70(4):404-8. PubMed ID: 9182782
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.
    Bauters M; Frints SG; Van Esch H; Spruijt L; Baldewijns MM; de Die-Smulders CE; Fryns JP; Marynen P; Froyen G
    Am J Med Genet A; 2014 Aug; 164A(8):1947-52. PubMed ID: 24737742
    [TBL] [Abstract][Full Text] [Related]  

  • 24. X chromosome inactivation patterns in Russell-Silver syndrome patients and their mothers.
    Beever CL; Peñaherrera MS; Langlois S; Robinson WR
    Am J Med Genet A; 2003 Dec; 123A(3):231-5. PubMed ID: 14608642
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
    Wyandt HE; Shim SH; Mark HF; Huang XL; Milunsky JM
    Exp Mol Pathol; 2006 Jun; 80(3):262-6. PubMed ID: 16516886
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up.
    Du C; Wang F; Li Z; Zhang M; Yu X; Liang Y; Luo X
    BMC Med Genomics; 2022 Feb; 15(1):19. PubMed ID: 35114986
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation.
    Steinbach P; Horstmann W; Scholz W
    Hum Genet; 1980; 54(3):309-13. PubMed ID: 7399525
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.
    Sismani C; Donoghue J; Alexandrou A; Karkaletsi M; Christopoulou S; Konstantinidou AE; Livanos P; Patsalis PC; Velissariou V
    Gene; 2013 Nov; 530(1):138-42. PubMed ID: 23973723
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.
    Fukami M; Okuyama T; Yamamori S; Nishimura G; Ogata T
    Am J Med Genet A; 2005 Aug; 137(1):72-6. PubMed ID: 16007631
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.
    Telvi L; Ion A; Carel JC; Desguerre I; Piraud M; Boutin AM; Feingold J; Ponsot G; Fellous M; McElreavey K
    J Med Genet; 1996 Sep; 33(9):767-71. PubMed ID: 8880579
    [TBL] [Abstract][Full Text] [Related]  

  • 31. An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
    Bowl MR; Nesbit MA; Harding B; Levy E; Jefferson A; Volpi E; Rizzoti K; Lovell-Badge R; Schlessinger D; Whyte MP; Thakker RV
    J Clin Invest; 2005 Oct; 115(10):2822-31. PubMed ID: 16167084
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.
    Karaman B; Wollnik B; Ermiş H; Yüksel-Apak M; Başaran S
    Prenat Diagn; 2003 Apr; 23(4):336-9. PubMed ID: 12673642
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies.
    Aughton DJ; AlSaadi AA; Johnson JA; Transue DJ; Trock GL
    Am J Med Genet; 1993 Apr; 46(2):159-64. PubMed ID: 7683452
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
    El-Hattab AW; Schaaf CP; Fang P; Roeder E; Kimonis VE; Church JA; Patel A; Cheung SW
    BMC Med Genet; 2015 Mar; 16():12. PubMed ID: 25927380
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.
    Yatsenko SA; Treadwell-Deering D; Krull K; Lewis RA; Glaze D; Stankiewicz P; Lupski JR; Potocki L
    Am J Med Genet A; 2005 Oct; 138A(2):175-80. PubMed ID: 16152635
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure.
    Kim MK; Seok HH; Kim YS; Chin MU; Sung SR; Lee WS; Shim SH; Yoon TK
    Gene; 2014 Jan; 534(1):54-9. PubMed ID: 24148559
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations.
    Gläser B; Shirneshan K; Bink K; Wirth J; Kehrer-Sawatzki H; Bartz U; Zoll B; Bohlander SK
    Am J Med Genet A; 2004 Apr; 126A(3):229-36. PubMed ID: 15054834
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Primary amenorrhoea in a patient with mosaicism for monosomy X and a derivative X-chromosome.
    Gersak K; Writzl K; Veble A; Liehr T
    Genet Couns; 2010; 21(3):335-42. PubMed ID: 20964126
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
    El-Hattab AW; Fang P; Jin W; Hughes JR; Gibson JB; Patel GS; Grange DK; Manwaring LP; Patel A; Stankiewicz P; Cheung SW
    J Med Genet; 2011 Dec; 48(12):840-50. PubMed ID: 21984752
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.
    Bonnet C; Grégoire MJ; Brochet K; Raffo E; Leheup B; Jonveaux P
    J Hum Genet; 2006; 51(9):815. PubMed ID: 16900295
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.