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152 related items for PubMed ID: 9321767

  • 1. Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.
    Rump P, Hamel BC, Pinckers AJ, van Dop PA.
    J Med Genet; 1997 Sep; 34(9):767-71. PubMed ID: 9321767
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  • 2. Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?
    Jbour AK, Mubaidin AF, Till M, El-Shanti H, Hadidi A, Ajlouni KM.
    J Med Genet; 2003 Jan; 40(1):e2. PubMed ID: 12525550
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  • 7. Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.
    Deik A, Johannes B, Rucker JC, Sánchez E, Brodie SE, Deegan E, Landy K, Kajiwara Y, Scelsa S, Saunders-Pullman R, Paisán-Ruiz C.
    J Neurol; 2014 Dec; 261(12):2411-23. PubMed ID: 25267340
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  • 9. Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.
    Barrientos A, Casademont J, Genís D, Cardellach F, Fernández-Real JM, Grau JM, Urbano-Márquez A, Estivill X, Nunes V.
    Hum Mutat; 1997 Dec; 10(3):212-6. PubMed ID: 9298821
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  • 10. Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia.
    Ichinose M, Tojo K, Nakayama M, Hasegawa T, Kawaguchi Y, Sakai O.
    Intern Med; 1995 Jan; 34(1):18-23. PubMed ID: 7718973
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  • 11. A new family of Boucher-Neuhäuser syndrome: coexistence of Holmes type cerebellar atrophy, hypogonadotropic hypogonadism and retinochoroidal degeneration: case reports and review of literature.
    Tojo K, Ichinose M, Nakayama M, Yamamoto H, Hasegawa T, Kawaguchi Y, Sealfon SC, Sakai O.
    Endocr J; 1995 Jun; 42(3):367-76. PubMed ID: 7670566
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  • 12. Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.
    Teive HAG, Camargo CHF, Sato MT, Shiokawa N, Boguszewski CL, Raskin S, Buck C, Seminara SB, Munhoz RP.
    Cerebellum; 2018 Jun; 17(3):380-385. PubMed ID: 29248984
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  • 13. [Hypogonadotropic hypogonadism discovered in a patient with cerebellar ataxia].
    Robin G, Jonard S, Vuillaume I, Devos D, Dewailly D.
    Ann Endocrinol (Paris); 2005 Dec; 66(6):545-51. PubMed ID: 16357818
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  • 14. Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.
    Langdahl JH, Frederiksen AL, Nguyen N, Brusgaard K, Juhl CB.
    Eur J Med Genet; 2017 Feb; 60(2):105-109. PubMed ID: 27866050
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  • 15. Late-onset Boucher-Neuhäuser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature.
    Kate MP, Kesavadas C, Nair M, Krishnan S, Soman M, Singh A.
    J Neurol Neurosurg Psychiatry; 2011 Aug; 82(8):888-91. PubMed ID: 20587490
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  • 16. Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism.
    Neuhäuser G, Opitz JM.
    Clin Genet; 1975 Aug; 7(5):426-34. PubMed ID: 1149314
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  • 17. Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations.
    Synofzik M, Kernstock C, Haack TB, Schöls L.
    J Neurol Neurosurg Psychiatry; 2015 May; 86(5):580-1. PubMed ID: 24790214
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  • 18. Are hypersegmented neutrophils a characteristic of Boucher-Neuhäuser syndrome?
    Umehara T, Yaguchi H, Suzuki M, Isozaki E, Mochio S.
    J Neurol Sci; 2010 Aug 15; 295(1-2):128-30. PubMed ID: 20605169
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  • 20. [A patient with cerebellar ataxia, hypogonadotropic hypogonadism and vitelliform macular dystrophy: Boucher-Neuhäuser syndrome].
    Kobayashi F, Kurihara Y, Nagasaka K, Iida H, Shindo K, Takiyama Y.
    Rinsho Shinkeigaku; 2010 Feb 15; 50(2):98-102. PubMed ID: 20196491
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