Rauch A - Search Results

1

DLG4-related synaptopathy: a new rare brain disorder.

Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: rauch a. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.

2

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.

Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA. Keyvani K, et al. Among authors: rauch a. Am J Med Genet. 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. Am J Med Genet. 1998. PMID: 9714442 Review.

3

Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome.

Rauch A, Feindt KA, Leonard CO, Thompson JA, Hoffman RO, Creel DJ, Opitz JM. Rauch A, et al. Am J Med Genet. 1999 Jan 15;82(2):194-8. doi: 10.1002/(sici)1096-8628(19990115)82:2<194::aid-ajmg18>3.0.co;2-7. Am J Med Genet. 1999. PMID: 9934988

4

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.

Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A. Zweier C, et al. Among authors: rauch a. Am J Med Genet. 2002 Mar 15;108(3):177-81. Am J Med Genet. 2002. PMID: 11891681

5

Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease.

Horn D, Weschke B, Zweier C, Rauch A. Horn D, et al. Among authors: rauch a. Am J Med Genet A. 2004 Jan 1;124A(1):102-4. doi: 10.1002/ajmg.a.20298. Am J Med Genet A. 2004. PMID: 14679597 No abstract available.

6

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.

Cerruti Mainardi P, Pastore G, Zweier C, Rauch A. Cerruti Mainardi P, et al. Among authors: rauch a. J Med Genet. 2004 Feb;41(2):e16. doi: 10.1136/jmg.2003.009548. J Med Genet. 2004. PMID: 14757866 Free PMC article. No abstract available.

7

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Hüffmeier U, Weyand M, Singer H, Hofbeck M. Rauch A, et al. Among authors: rauch r. J Med Genet. 2005 Nov;42(11):871-6. doi: 10.1136/jmg.2004.030619. Epub 2005 Apr 14. J Med Genet. 2005. PMID: 15831592 Free PMC article.

8

9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic.

Zweier C, Guth S, Schulte-Mattler U, Rauch A, Trautmann U. Zweier C, et al. Among authors: rauch a. Eur J Med Genet. 2005 Jul-Sep;48(3):360-2. doi: 10.1016/j.ejmg.2005.04.016. Eur J Med Genet. 2005. PMID: 16179233

9

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.

Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Rüschendorf F, Sticht H, Spranger J, Müller D, Zweier C, Schmitt ME, Reis A, Rauch A. Thiel CT, et al. Among authors: rauch a. Am J Hum Genet. 2005 Nov;77(5):795-806. doi: 10.1086/497708. Epub 2005 Sep 29. Am J Hum Genet. 2005. PMID: 16252239 Free PMC article.

10

Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

Zweier C, Horn D, Kraus C, Rauch A. Zweier C, et al. Among authors: rauch a. Am J Med Genet A. 2006 Apr 15;140(8):869-72. doi: 10.1002/ajmg.a.31196. Am J Med Genet A. 2006. PMID: 16532472 Review.

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