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  • Albrecht S, Schneider MC, Belmont J, Armstrong DL. 1993. Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and microcephaly: Report of three siblings. Acta Neuropathol 85: 394399.
  • Barth PG. 1993. Pontocerebellar hypoplasias. Brain Dev 15: 411422.
  • Barth PG, Blennow G, Lenard HG, Begeer JH, Van der Kley JM, Hanefeld F, Peters ACB, Valk J. 1995. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly and extrapyramidal dyskinesia (PCH2): Compiled data from 10 pedigrees. Neurology 45: 311317.
  • Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrié A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J. 1998. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392: 923926.
  • Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. 2008. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet 40: 11131118.
  • Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada E, Elpeleg O. 2007. Deleterious mutation in the arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Med Genet 81: 857862.
  • Gibbons RJ, Higgs DR. 2000. Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet 97: 204212.
  • Hartmann H, Uyanik G, Gross C, Hehr U, Lucke T, Arslan-Kirchner M, Antosch B, Das AM, Winkler J. 2004. Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a noval familial mutation in the Aristaless-related homeobox gene. Neuropediatrics 35: 157160.
  • Herman GE. 2003. Disorders of cholesterol biosynthesis: Prototypic metabolic malformation syndromes. Hum Mol Genet 12: R75R88.
  • Huq AHMM, Nigro MA. 2000. XY sex reversal and a nonprogressive neurologic disorder: A new syndrome? Pediatr Neurol 23: 357360.
  • Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB. 2004. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat 23: 147159.
  • Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW. 2004. Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. Am J Med Genet Part A 125A: 293298.
  • Law H, Mushtaq I, Wingrove K, Malone M, Sebire NJ. 2006. Histopathological features of testicular regression syndrome: Relation to patient age and implications for management. Fetal Pediatr Pathol 25: 119129.
  • Lobaccaro J, Medlej R, Berta P, Belon C, Galifer R, Guthmann J, Chevalier C, Czernichow P, Dumas R, Sultan C. 1993. PCR analysis and sequencing of the SRY sex determining gene in four patients with bilateral congenital anorchia. Clin Endocrinol 38: 197201.
  • Marcantonio SM, Fechner PY, Migeon CJ, Perlman EJ, Berkovitz GD. 1994. Embryonic testicular regression sequence: A part of the clinical spectrum of 46, XY gonadal dysgenesis. Am J Med Genet 49: 15.
  • Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K. 2008. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet 40: 10651067.
  • Norman RM. 1961. Cerebellar hypoplasia in Werdnig-Hoffmann disease. Arch Dis Child 36: 96101.
  • Parisi MA, Kletter GB, Grady R, Mitchell M, Ramsdell LA, Pagon RA. 2002. Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: A distinct syndrome? Am J Med Genet 109: 271277.
  • Patel MS, Becker LE, Toi A, Armstrong DL, Chitayat D. 2006. Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Am J Med Genet Part A 140A: 594603.
  • Philibert P, Zenaty D, Lin L, Soskin S, Audran F, Leger J, Achermann JC, Sultan C. 2007. Mutational analysis of steroidogenic factor 1 (NR5α1) in 24 boys with bilateral anorchia: A French collaborative study. Hum Reprod 22: 32553261.
  • Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, Holmes Morton D, Stephan DA. 2004. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and indentification of the TSPYL loss of function. Proc Natl Acad Sci 101: 1168911694.
  • Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA. 2003. A novel form of pontocerebellar hypoplasia maps to chromosome 7q.11-21. Neurology 60: 16641667.
  • Rudnik-Schöneborn S, Sztriha L, Aithala GR, Houge G, Laegreid LM, Seeger J, Huppke M, Wirth B, Zerres K. 2003. Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet Part A 117A: 1017.
  • Smith NM, Byard RW, Bourne AJ. 1991. Testicular regression syndrome—A pathological study of 77 cases. Histopathology 19: 269272.
  • Spires SE, Woolums CS, Pulito AR, Spires SM. 2000. Testicular regression syndrome; a clinical and pathologic study of 11 cases. Arch Pathol Lab Med 124: 694698.
  • Suri M. 2005. The phenotypic spectrum of ARX mutations. Dev Med Child Neurol 47: 133137.
  • Vinci G, Anjot M, Trivin C, Lottman H, Brauner R, McElreavey K. 2004. An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia. J Clin Endocrinol Metab 89: 62826285.
  • Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des Portes V, Beldjord C, Chelly J. 2005. Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology 65: 13641369.
  • Zenaty D, Dijoud F, Morel Y, Cabrol S, Mouriquand P, Nicolino M, Bouvatier C, Pinto G, Lecointre C, Pienkowski C, Soskin S, Bost M, Bertrand AM, El-Ghoneimi A, Nihoul-Fekete C, Leger J. 2006. Bilateral anorchia in infancy: Occurrence of micropenis and the effect of testosterone treatment. J Pediatr 149: 687691.