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Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L. Abou Jamra R, et al. Among authors: nothen mm. Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27. Am J Hum Genet. 2011. PMID: 21620353 Free PMC article.
A gene for universal congenital alopecia maps to chromosome 8p21-22.
Nöthen MM, Cichon S, Vogt IR, Hemmer S, Kruse R, Knapp M, Höller T, Faiyaz ul Haque M, Haque S, Propping P, Ahmad M, Rietschel M. Nöthen MM, et al. Am J Hum Genet. 1998 Feb;62(2):386-90. doi: 10.1086/301717. Am J Hum Genet. 1998. PMID: 9463324 Free PMC article.
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.
Buiting K, Dittrich B, Gross S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B. Buiting K, et al. Among authors: nothen mm. Am J Hum Genet. 1998 Jul;63(1):170-80. doi: 10.1086/301935. Am J Hum Genet. 1998. PMID: 9634532 Free PMC article.
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.
Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nöthen MM. Betz RC, et al. Among authors: nothen mm. Am J Hum Genet. 2000 Jun;66(6):1979-83. doi: 10.1086/302934. Epub 2000 May 2. Am J Hum Genet. 2000. PMID: 10793007 Free PMC article.
Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.
Bosse K, Betz RC, Lee YA, Wienker TF, Reis A, Kleen H, Propping P, Cichon S, Nöthen MM. Bosse K, et al. Among authors: nothen mm. Am J Hum Genet. 2000 Aug;67(2):492-7. doi: 10.1086/303028. Epub 2000 Jun 30. Am J Hum Genet. 2000. PMID: 10877983 Free PMC article.
Family-based association studies of alpha-adrenergic receptor genes in chromosomal regions with linkage to bipolar affective disorder.
Abou Jamra R, Schumacher J, Golla A, Richter C, Otte AC, Schulze TG, Ohlraun S, Maier W, Rietschel M, Cichon S, Propping P, Nöthen MM. Abou Jamra R, et al. Among authors: nothen mm. Am J Med Genet B Neuropsychiatr Genet. 2004 Apr 1;126B(1):79-81. doi: 10.1002/ajmg.b.20145. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 15048653
1,051 results