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81 Possible Causes for kelberman

  • Genetic Combined Pituitary Hormone Deficiencies

    McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT: HESX1 mutations are an uncommon cause[karger.com] Kelberman D, Turton JP, Woods KS, Mehta A, Al-Khawari M, Greening J, Swift PG, Otonkoski T, Rhodes SJ, Dattani MT.[ghr.nlm.nih.gov] (PMID: 19128366) Kelberman D … Dattani MT (Clinical endocrinology 2009) 3 4 22 60 High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined[genecards.org]

  • Septo-Optic Dysplasia

    Kelberman D, Dattani MT. Genetics of septo-optic dysplasia. Pituitary. 2007;10(4):393-407. Review. Kelberman D, Dattani MT.[ghr.nlm.nih.gov] Kelberman D, Turton JP, Woods KS, Mehta A, Al-Khawari M, Greening J, et al.[dx.doi.org] McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT.[ghr.nlm.nih.gov]

  • Autosomal Recessive Ocular Coloboma

    […] small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman[ncbi.nlm.nih.gov] Journal Am J Hum Genet 72:1565-70 (2003) DOI: 10.1086/375555 Reference PMID: 24412933 Authors Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A,[genome.jp]

  • Peters Anomaly

    Journal Int Ophthalmol Clin 51:107-17 (2011) DOI: 10.1097/IIO.0b013e31821e538b Reference PMID: 21738392 Authors Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK Title[genome.jp] Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK. Chromosome abnormalities and the genetics of congenital corneal opacification. Mol Vis. 2011;17:1624-40.[eyewiki.aao.org]

  • Combined Pituitary Hormone Deficiency 6

    Kelberman D, Turton JP, Woods KS, Mehta A, Al-Khawari M, Greening J, Swift PG, Otonkoski T, Rhodes SJ, Dattani MT.[ghr.nlm.nih.gov] (PMID: 19128366) Kelberman D … Dattani MT (Clinical endocrinology 2009) 3 4 22 60 High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined[genecards.org] McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT: HESX1 mutations are an uncommon cause[karger.com]

  • 46,XY Complete Gonadal Dysgenesis

    Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, et al.[degruyter.com] Kelberman, T. Homfray, A.[apcontinuada.com]

  • Female Gonadal Dysgenesis

    Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, et al.[degruyter.com] Kelberman, T. Homfray, A.[apcontinuada.com]

  • Isolated Growth Hormone Deficiency Type 2

    Google Scholar Kelberman, D., Rizzoti, K., Avilio, A., et al. (2006).[link.springer.com] Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, Banerjee K, Sinha SK,[ghr.nlm.nih.gov] Alatzoglou KS, Turton JP, Kelberman D, et al: Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated[karger.com]

  • Panhypopituitarism

    Kelberman D, Rizzoti K, Lovell-Badge R, Robinson IC, Dattani MT. Genetic regulation of pituitary gland development in human and mouse.[ijem.in] Kelberman D, Turton JP, Woods KS, Mehta A, Al-Khawari M, Greening J, Swift PG, Otonkoski T, Rhodes SJ, Dattani MT.[ghr.nlm.nih.gov] References Kelberman D, Dattani MT (2007) Hypopituitarism Oddities: Congenital Causes. Horm res 68: 138-144.[omicsonline.org]

  • Uveal Disease

    References Article Title: Mutation of SALL2 causes recessive ocular coloboma in humans and mice Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel[disorders.eyes.arizona.edu]

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