Malformation genes

Articles

• FGFR1
  18 January 2005

  Pathology
  germ-line mutations of FGFR1
  in Pfeiffer syndrome (MIM.101600)
  in Kallmann syndrome with or without cleft lip/palate, or with bimanual synkinesia, or with multiple dental agenesis (MIM.147950)
  in osteoglophonic dysplasia
  isolated trigonocephaly (MIM.190440)
  isolated trigonocephaly (MIM.190440)
  fusion proteins in cellular proliferations
  BCR-FGFR1 by t(8;22)(p12;q11) in chronic myeloid leukemia (FGFR1 at 8p12 and BCR ar 22q11)
  CEP110-FGFR1 by t(8;9)(p12;q33) in (...)

• cardiac malformations
  13 April 2004

  heart malformations, congenital heart defects, congenital cardiopathies, congenital heart diseases

• TGIF1
  23 June 2008

  TGIF

• HOXA13
  20 June 2005

  Pathology
  triphalangeal thumb-brachyectrodactyly syndrome (#12382951#)
  hand-foot-genital syndrome
  polyalanine repeat expansion
  HOXA genes in T-cell acute lymphoblastic leukemia (T-ALL)
  HOXA13 rearrangement and surexpression in T-cell acute lymphoblastic leukemia (T-ALL) (#16804919#)
  See also
  polyalanine repeat expansions
  References
  Su X, Drabkin H, Clappier E, Morgado E, Busson M, Romana S, Soulier J, Berger R, Bernard OA, Lavau C. Transforming potential of the T-cell acute (...)

• SIX3
  13 May 2005

  Pathology
  germline mutations of SIX3 in holoprosencephaly 2 (HPE2) (MIM.157170) microphtalmia iris coloboma
  See also
  SIXs

• FLNA
  22 March 2005

  filamin-1

• AKT3
  29 October 2007

  References
  Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet. 2007 Aug;81(2):292-303. PMID: #17668379#

• MYCN
  18 April 2005

  NMYC, N-MYC

• TWIST1
  3 April 2005

  twist-1, twist1, TWST, TWIST

• TBX22
  15 October 2007

  Pathology
  TBX22 germline mutations in X-linked cleft palate with ankyloglossia (XCP) (MIM.303400)
  See also
  TBXs
  References
  Andreou AM, Pauws E, Jones MC, Singh MK, Bussen M, Doudney K, Moore GE, Kispert A, Brosens JJ, Stanier P. TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. Am J Hum Genet. 2007 Oct;81(4):700-12. PMID: (...)

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