Publikationsverzeichnis Prof. Dr. med. Anita Rauch
A) Originalarbeiten
108. Göhring I, Tagariello A, Endele S, Stolt CC, Ghassibé M, Fisher M, Thiel CT, Trautmann U, Vikkula M, Winterpacht A, FitzPatrick DR, Rauch A (2009) Disruption
of ST5 is associated with mental-retardation and multiple congenital anomalies. J Med
Genet, in press
107. Segel R, Levy-Lahad E, Pasutto F, Picard E, Rauch A, Alterescu G, Schimmel MS
(2009) Pulmonary hypoplasia-Diaphragmatic hernia-Anophthalmia-Cardiac defect (PDAC) syndrome due to STRA6 Mutations – What are the minimal criteria? Am J Med Genet, in press 106. Hoyer J, Kraus C, Hammersen G, Geppert JP, Rauch A (2009) Lethal cutis laxa with
contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. Clin Genet. 2009 Aug 3. [Epub ahead of print] 105. Tibelius A, Marhold J, Zentgraf H, Heilig CE, Neitzel H, Ducommun B, Rauch A, Ho
AD, Bartek J, Krämer A (2009) Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1. J Cell Biol 185:1149-1157. 104. Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiß-Nachtsheim M, Firth HV,
Rauch A (2009) A novel microdeletion syndrome involving 5q14.3-q15: clinical and
molecular cytogenetic characterization of three patients. Eur J Hum Genet. 2009 May
27. [Epub ahead of print]
103. Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A
(2009) Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet A 149A:1263-1267. 102. Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B,
Wieczorek D, Zenker M, Kutsche K (2009) Goltz-Gorlin (focal dermal hypoplasia) and
the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic
overlap. Eur J Hum Genet. [Epub ahead of print]
101. Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch
, Zenker M, Adam M, Innes M, Davies C, González-Meneses López A, Casalone R,
Weber A, Brueton LA, Delicado Navarro A, Palomares Bralo M, Venselaar H,
Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG (2009) Further clinical and
molecular delineation of the 9q Subtelomeric Deletion Syndrome supports a major
contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet. [Epub
ahead of print]

100. Cisse B, Caton ML, Lehner M, Maeda T, Scheu S, Locksley R, Holmberg D, Zweier C, den Hollander NS, Kant SG, Holter W, Rauch A, Zhuang Y, Reizis B (2008)
Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic
cell development. Cell 135:37-48.
99. Zweier C, Sticht H, Bijlsma E, Clayton-Smith J, Boonen SE, Fryer A, Greally MT, Hoffmann L, den Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKee Prof. Dr. med. Anita Rauch, Publikationsverzeichnis Seite 2 S, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A (2008)
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of
sixteen novel patients. J Med Genet 45:738-44.
98. Göhring I, Blümlein HM, Hoyer J, Ekici A, Trautmann U, Rauch A (2008) 6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development. Eur J Med Genet 51:666-71. 97. Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett
A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori
M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL,
Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom
TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price
SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O,
Eichler EE, de Vries BB (2008) Clinical and molecular delineation of the 17q21.31
microdeletion syndrome. J Med Genet 45:710-20.
96. Baradaran-Heravi A, Thiel C, Rauch A, Zenker M, Boerkoel CF, Kaitila I (2008)
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. Am J Med Genet A 146A:2013-2017. 95. Graul-Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C (2008) Highly Variable
Cutis Laxa Resulting from a Dominant Splicing Mutation of the Elastin Gene. Am J Med Genet 146A:977-83. 94. Thiel CT, Dörr HG, Trautmann U, Hoyer J, Hofmann K, Kraus C, Ekici A, Reis A, Rauch A (2008) A de-novo 7.6 Mb tandem duplication of 14q32.2-qter associated with
primordial short stature with neurosecretory growth hormone dysfunction, distinct facial
anomalies and mild developmental delay. Eur J Med Genet 51:362-7.
93. Thiel CT, Knebel B, Knerr I, Sticht H, Müller-Wieland D, Zenker M, Reis A, Dörr HG, Rauch A (2008) Two novel mutations in the insulin binding subunit of the insulin
receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall
syndrome. Mol Genet Metab 94:356-62.
92. Zweier C, Trautmann U, Ekici A, Rauch A (2008) 15 Mb duplication of 6q24.1-q25.3
associated with typical but milder features of the duplication 6q syndrome. Eur J Med Genet 51:358-361. 91. Simm D, Degenhardt K, Gerdemann C, Völkl TM, Rauch A, Dörr HG (2008)
[Chronological age of patients with Turner syndrome at diagnosis.] Klin Padiatr 220:16-20. 90. Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke
TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voß E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A (2008) Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 319:816-819. (2008) Inversion Region for Hypertension and Brachydactyly on Chromosome 12p Features Multiple Splicing and Noncoding RNA. Hypertension 51:426-431. (2008) Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital Prof. Dr. med. Anita Rauch, Publikationsverzeichnis Seite 3 insensitivity to pain with anhidrosis. Neuromuscul Disord 18:159-166. 87. Apitz C, Schaefer J, Sieverding L, Rauch A, Hofbeck M (2008) Spontaneous
Development and Rupture of Pulmonary Artery Aneurysm: A Rare Complication in an Infant with Peripheral Pulmonary Artery Stenoses Due to Mutation of the Elastin Gene. Pediatr Cardiol 29:438-41. (2007) Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature. Cytogenet Genome Res 118:31-37. and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome. Eur J Med Genet 50:421-431. (2007) Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet 15:1105-14. 83. Strenge S, Heinritz W, Zweier C, Rauch A, Rolle U, Merkenschlager A, Froster UG
(2007) Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. Am J Med Genet A 143:1528-1530. 82. Hoyer J, Dreweke A, Becker C, Göhring I, Thiel CT, Peippo MM, Rauch R, Hofbeck M, Trautmann U, Zweier C, Zenker M, Hüffmeier U, Kraus C, Ekici AB, Rüschendorf F,
Nürnberg P, Reis A, Rauch A (2007) Molecular karyotyping in patients with mental
retardation using 100 K SNP arrays. J Med Genet 44:629-36.
81. Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr H-G, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Nowak A, Rauch
, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas
V, Kratz CP, Thomas C, Kutsche K (2007) SOS1 is the second most common Noonan
gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet 44:651-
80. Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A (2007) Type and level of RMRP
functional impairment predicts phenotype in Cartilage hair hypoplasia - Anauxetic dysplasia spectrum. Am J Hum Genet 81:519-529. 79. Chitayat D, Sroka H, Keating S, Colby RS, Ryan G, Toi A, Blaser S, Viero S, Devisme L, Boute-Bénéjean O, Manouvrier-Hanu S, Mortier G, Loeys B, Rauch A, Bitoun P
(2007) The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic
hernia/eventration, anophthalmia/ microphthalmia, and cardiac defect) (Spear syndrome,
Matthew-Wood syndrome): Report of eight cases including a living child and further
evidence for autosomal recessive inheritance. Am J Med Genet A 143A:1268-1281.
78. Hüffmeier U, Tietze HU, Rauch A (2007) Severe skeletal dysplasia caused by
undiagnosed hypothyroidism. Eur J Med Genet 50:209-15. 77. Crisponi L, Crisponi G, Meloni A, Toliat MR, Nürnberg G, Usala G, Uda M, Masala M, Höhne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F,
Reese T, Jakobs C, Kurlemann G, Cao A, Nürnberg P, Rutsch F (2007) Crisponi
Syndrome is Caused by Mutations in the CRLF1 Gene and is Allelic to Cold-Induced
Sweating Syndrome. Am J Hum Genet 80:971-981.
76. Aigner T, Rau T, Niederhagen M, Zaucke F, Schmitz M, Pohls U, Stoss H, Rauch A,
Prof. Dr. med. Anita Rauch, Publikationsverzeichnis Seite 4 Thiel C (2007): Achondrogenesis Type IA (Houston-Harris): a still unresolved molecular phenotype. Pediatr Dev Pathol 10:328-334. 75. Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Göhring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RCM,
Orrico A, Cohen M, Dreweke A, Reis A, Nürnberg P, Rauch A (2007):
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent
hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 80:994-1001.
74. Zweier C, Sticht H, Aydin-Yaylagül Y, Campbell CE, Rauch A (2007): Human TBX1
missense mutations cause gain-of-function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet 80:510-517. 73. Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, FitzPatrick DR, Nürnberg G, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L,
Keating S, Mortier G, Hennekam RCM, von der Wense A, Slavotinek A, Meinecke P,
Bitoun P, Becker C, Nürnberg P, Reis A and Rauch A (2007): Mutations in STRA6
cause a broad spectrum of malformations including anophthalmia, congenital heart
defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia and mental
retardation. Am J Hum Genet 80:550-560.
72. Sauerstein K, Schroth M, Amann K, Hoyer J, Singer H, Rauch A, Dotsch J (2007):
Pulmonary embolism-a rare complication of Schimke immunoosseous dysplasia. Eur J Pediatr 166:1285-8. 71. Melichar VO, Guth S, Hellebrand H, Meindl A, Hardt KV, Kraus C, Trautmann U, Rascher W, Rauch A, Zenker M (2007): A male infant with a 9.6 Mb terminal Xp
deletion including the OA1 locus: Limit of viability of Xp deletions in males. Am J Med
Genet A 143:135-141.
70. Hüffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A (2006): A variable combination
of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. Am J Med Genet A 140:2749-56. 69. Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, Zenker M, Huffmeier U, Thiel
C, Ruschendorf F, Nurnberg P, Reis A, Trautmann U (2006): Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A140:2063-74. 68. Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V
(2006): A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. Am J Med Genet A 140:1223-1227. 67. Krause FS, Rauch A, Schrott KM, Engehausen DG. Clinical decisions for treatment of
different staged bladder cancer based on multitarget fluorescence in situ hybridization assays? (2006). World J Urol. 24:418-22. 66. Jung R, Rauch A, Salomons GS, Verhoeven NM, Jakobs C, Gibson KM, Lachmann E,
Sass JO, Trautmann U, Zweier C, Staatz G, Knerr I (2006): Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. Mol Genet Metab 88:256-60. 65. Zweier C, Horn D, Kraus C, Rauch A (2006): Atypical ZFHX1B mutation associated
with a mild Mowat-Wilson syndrome phenotype. Am J Med Genet A140:869-872. 64. Tanteles GA, Kurup B, Rauch A, Splitt MP (2006): Microcephaly, lissencephaly,
Hirschsprung disease and tetralogy of Fallot: a new syndrome? Clin Dysmorphol 15:107-110. Prof. Dr. med. Anita Rauch, Publikationsverzeichnis Seite 5 63. Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A,
Niemeyer CM, Shannon K, Kratz CP (2006): Germline KRAS mutations cause Noonan
syndrome. Nat Genet 38:331-336.
Klinefelter syndrome and mediastinal germ cell tumors. Am J Med Genet A140:471-481. (2006): Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionary conserved non-transcribed region. J Med Genet 43(6):534-40. 60. 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 (2005): Severely
incapacitating mutations in patients with extreme short stature identify RNA processing
endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet 77:795-
59. Zweier C, Guth S, Schulte-Mattler U, Rauch A, Trautmann U (2005): 9 Mb deletion in
chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic. Eur J Med Genet 48:360-362. 58. Wick U, Kirsch M, Rauch A, Chudoba I, Lausen B, Efferth T, Gebhart E (2005): FISH
studies on the telomeric regions of the T-cell acute lymphoblastic leukemia cell line CCRF-CEM. Cytogenet Genome Res 111:34-40. 57. Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Hüffmeier U,
Weyand M, Singer H, Hofbeck M (2005): Systematic assessement of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J Med Genet 42:871-876. 56. Garavelli L, Cerruti-Mainardi P, Virdis R, Pedori S, Pastore G, Godi M, Provera S, Rauch A, Zweier C, Zollino M, Banchini G, Longo N, Mowat D, Neri G, Bernasconi S
(2005): Genitourinary Anomalies in Mowat-Wilson Syndrome with Deletion/Mutation
in the Zinc Finger Homeo Box 1B Gene (ZFHX1B). Report of Three Italian Cases with
Hypospadias and Review. Horm Res. 63:187-192.
55. Hüffmeier U, Hausser I, Reis A, Rauch A (2005): A novel autosomal recessive
progressive hyperpigmentation syndrome. Am J Med Genet. 135A:195-199. 54. Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC,
Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz K,
Mannhardt A, Medne L, Mücke J, Kibaek M, Nylandsted Krogh L, Peippo M, Rittinger
O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P,
Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry BR,
Rauch A (2005): Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J
Med Genet 48:97-111.
53. Thiel CT, Rosanowski F, Kohlhase J, Reis A, Rauch A (2005): Exclusion of TCOF1
mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia. Clin Dysmorphol. 2005:67-71. 52. Rauch R, Rauch A, Kaulitz R, Koch A, Zink S, Girisch M, Singer H, Hofbeck M
(2005): Cervical origin of the subclavian artery: echocardiographic diagnosis in patients with monosomy 22q11. Ultraschall Med. 26:36-41. 51. Zenker M, Wermuth B, Trautmann U, Knerr I, Kraus C, Rauch A, Reis A (2005):
Prof. Dr. med. Anita Rauch, Publikationsverzeichnis Seite 6 Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11). Am J Med Genet A 132A:185-188. 50. Rauch A, Rüschendorf F, Huang J, Trautmann U, Becker C, Thiel C, Jones KW, Reis
A, Nürnberg P (2004): Molecular karyotyping using a SNP array for genome-wide genotyping. J Med Genet 41:916-922. 49. Rauch R, Rauch A, Koch A, Zink S, Kaulitz R, Girisch M, Singer H, Hofbeck M
(2004): Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes? Eur J Pediatr 163:642-645. 48. Altug Teber O, Gillessen-Kaesbach G, Fischer S, Bohringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK,
Konig R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H,
Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D (2004): Genotyping in 46
patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected
phenotypic variation. Eur J Hum Genet 12:879-890.
47. Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, Tariverdian G,
Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D (2004): Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Am J Hum Genet 75:138-145. 46. Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis
A (2004): A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia (PVNH+FMD) in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. Am J Hum Genet 74:731-737. 45. Bähring S, Rauch A, Toka O, Schroeder C, Hesse C, Siedler H, Fesüs G, Haefeli WE,
Busjahn A, Aydin A, Neuenfeld Y, Mühl A. Toka HR, Gollasch M, Jordan J, Luft FC (2004): Autosomal-dominant hypertension with type E brachydactyly is caused by a rearrangement on the short arm of chromosome 12. Hypertension 43:1-6. 44. Zenker M, Buheitel G, Rauch R, König R, Bosse K, Kress W, Tietze H.-U., Dörr H.-G., Hofbeck M, Singer H, Reis A, Rauch A (2004): Genotype phenotype correlation in
Noonan syndrome. J Pediatr 144:368-374.
43. Rauch A, Devriendt K, Koch A, Rauch R, Gewillig M, Kraus C, Weyand M, Singer H,
Reis A, Hofbeck M (2004): Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestation of congenital heart defects in 22q11.2 deletion patients. J Med Genet 41:e40. 42. Rohrer TR, Gassmann KF, Rauch A, Pfeiffer RA, Doerr HG (2004): Growth of
heterokaryotic monozygotic twins discordant for Ullrich-Turner syndrome during the first years of life. Am J Med Genet 126A:78-83. 41. Cerruti Mainardi P, Pastore G, Zweier C, Rauch A (2004): Mowat-Wilson syndrome
and mutation in the Zinc Finger Homeo Box1B Gene: a well defined clinical entity. J Med Genet 41:e16. 40. Rauch A, Hofbeck M, Cesnjevar R, Koch A, Rauch R, Buheitel G, Singer H, Weyand
M (2004): Search for somatic 22q11.2 deletions in patients with conotruncal heart defects. Am J Med Genet 124A:165-169. 39. Horn D, Weschke B, Zweier C, Rauch A (2004): Facial phenotype allows diagnosis of
Mowat-Wilson syndrome in the absence of Hirschsprung disease. Am J Med Genet 124A:102-104. Prof. Dr. med. Anita Rauch, Publikationsverzeichnis Seite 7 38. Zweier C, Temple IK, Beemer F, Zackai E, Sagie T, Weschke B, Rauch A (2003):
Characterization of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. J Med Genet 40:601-605. 37. Heller R, Rauch A, Lüttgen S, Schröder B, Winterpacht A (2003). Partial deletion of the
critical 1.5 Mb interval in Williams-Beuren syndrome. J Med Genet 40:e99. 36. Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Newbury-Ecob R, Reardon W
(2003): Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, Acro-Reno-Ocular syndrome and patients previously reported to represent Thalidomide Embryopathy. J Med Genet 40:473-478. 35. Rauch A, Beese M, Mayatepek E, Dörr HG, Wenzel D, Reis A, Trautmann U (2003): A
novel 5q35.3 subtelomeric deletion syndrome. Am J Med Genet 121A:1-8. 34. Trollmann R, Kraus C, Orlova N, Rupprecht T, Wenzel D, Rauch A (2003):
Diagnosesicherung des Morbus Alexander in vivo durch Mutationsanalyse des GFAP-Gens. Monatsschr Kinderh, 151:311-314. 33. Thiel CT, Kraus C, Rauch A, Ekici AB, Rautenstrauss B, Reis A (2003): A new
quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions to HMSN/HNPP. Eur J Hum Genet 11:170-178. 32. Driess S, Freese K, Bornholdt D, Kobelt A, Kress W, Mortier G, Radhakrishna U, Antonarakis SE, Rauch A, Suri M, Verheij JB, Woerle H, Grzeschik KH, Kalff-Suske
M (2003): Gene symbol: GLI3. Disease Greig cephalopolysyndactyly syndrome: Hum
Genet 112:103.
31. Garavelli L, Donadio A, Zanacca C, Banchini G, Della Giustina E, Bertani G, Albertini G, Del Rossi C, Rauch A, Zweier C, Zollino M, Neri G (2003): Hirschsprung disease,
mental retardation, characteristic facial features and mutation in the gene ZFHX1B
(SIP1): Confirmation of the new syndrome described by Mowat. Am J Med
30. Koch A, Buheitel G, Hofbeck M, Rauch A, Kraus C, Tassabehji M, Singer H (2003):
Spectrum of arterial obstructions caused by one elastin gene point mutation. Eur J Pediatr 162:53-54. 29. Koch A, Hofbeck M, Buheitel G, Dörr H-G, Rauch A, Rauch R, Singer H (2002):
Hypoparathyroidism in conotruncal heart defects. Eur J Pediatr 161:208-211. 28. Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A (2002): “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 homeobox 1 B gene (ZFHX1B), Am J Med
Genet, 108:177-181.
27. Rauch R, Rauch A, Koch A, Kumpf M, Dufke A, Singer H, Hofbeck M (2002):
Cervical Origin of the Subclavian Artery as a Specific Marker for Monosomy 22q11. Am J Cardiol 89:481-484. 26. Zenker M, Rittinger O, Grosse KP, Speicher MR, Kraus J, Rauch A, Trautmann U
(2002): Monosomy 1p36 – a recently delineated, clinically recognizable syndrome. Clin Dysmorphol 11:43-48. Prof. Dr. med. Anita Rauch, Publikationsverzeichnis Seite 8 25. Opitz JM, Rauch AM, Poss A, Pfeiffer A, Folland DS, Walker D (2001): The FG
syndrome: perspective in 2001. Ital J Pediatr 27:715-729. 24. Rauch A, Schellmoser S, Kraus C, Dörr HG, Trautmann U, Altherr M, Pfeiffer RA,
Reis A (2001): First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Am J Med Genet, 99:338-342. 23. Beier KC, Hutloff A, Dittrich AM, Heuck C, Rauch A, Büchner K, Ludewig B, Ochs
HD, Mages HW, Kroczek RA (2000): Induction, binding specificity and function of human ICOS. Eur J Immunol, 30:3707-3717. 22. Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch
A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read
AP, Donnai D, Tassabehji M (2000): Elastin: mutational spectrum in supravalvular
aortic stenosis. Eur J Hum Genet 8:955-63.
21. Ozonoff S WB, Williams B, Rauch A, Opitz JM (2000): Behaviour phenotype of FG
syndrome: cognition, personality, and behaviour in eleven affected boys. Am J Med Genet, 97:112-118. 20. Hofbeck M, Rauch R, Beinder E, Buheitel G, Rauch A, Singer H (1999): Pränatale
Detektionsrate angeborener Rechtsherzfehler, Z Geburtshilfe Neonatol, 203:207-12. 19. Hofbeck M, Leipold G, Rauch A, Buheitel G, Singer H (1999): Clinical relevance of
monosomy 22q11.2 in children with pulmonary atresia and ventricular septal defect, Eur J Ped, 158:302-307. 18. Rauch A, Pfeiffer RA, Leipold G, Tigges M, Singer H, Hofbeck M (1999): A novel
22q11.2 microdeletion in DiGeorge syndrome. Am J Hum Genet, 64:658-666. 17. Pfeiffer R A, Rauch A, Trautmann U, Dörr H G, Hiort O, Scherer G, Rösch G,
Papadopulos T, von der Hardt K, Lachmann E (1999): Defective sexual development in an infant with 46,XY,der(9)t(8;9)(q23.1;p23)mat. Eur J Ped, 158:213-216. 16. Rauch A, Feindt K A, Leonard C O, Thompson J A, Hoffman R O, Creel D J, Opitz J M
(1999): Previously apparently undescribed autosomal recessive MCA/MR syndrome with light-fixation, retinal cone dystrophy, and seizures - the M syndrome. Am J Med Genet, 82:194-198. 15. Weissörtel R, Strom T M, Dörr H G, Rauch A, Meitinger T (1998): Analysis of an
interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Clin Genet, 54:45-51. 14. Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer R A (1998): Ichtyosis follicularis, alopecia and photophobia (IFAP)
syndrome. Clinical and neuropathological observations in a 33 year old male. Am J Med
Genet, 78:371-377.
13. Rauch A, Hofbeck M, Leipold G, Klinge J, Trautmann U, Kirsch M, Singer H, Pfeiffer
R A (1998): Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch. Am J Med Genet, 78:322-331. Prof. Dr. med. Anita Rauch, Publikationsverzeichnis Seite 9 12. Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas O, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M,
Meitinger T (1998): Deletion mapping on chromosome 10p and definition of a critical
region for the second DiGeorge syndrome locus (DGS2). Eur J Hum Genet 6:213-225.
11. Pfeiffer R A, Rauch A, Ulmer R, Beinder E, Trautmann U (1998): Interstitial deletion
del(3)(p12p21) in a malformed child subsequent to paternal paracentric insertion (or in-traarm shift) 46,XY,ins(3)(p24.1p21.1p21.31). Ann Génét 41:17-21. 10. Rauch A, Hofbeck M, Bähring S, Leipold G, Trautmann U, Singer H, Pfeiffer R A
(1998): Monozygotic twins concordant for Cayler syndrome. Am J Med Genet 75:113-117. 9. Hofbeck M, Rauch A, Buheitel G, Leipold G, von der Emde J, Pfeiffer R A, Singer H
(1998): Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries. Heart 79:180-185. 8. Pfeiffer R A, Ulmer R, Rauch A, Beinder E, Rupprecht T, Mayer U, Steinkirchner B,
Wündisch G F, Trautmann U (1997): True fetal mosaicism of an isochromosome of the long arm of a chromosome 20: the dilemma persists. Prenatal Diag 17:1171-1175. 7. Pfeiffer R A, Kändler C, Sieber E, Rauch A, Trautmann U (1997): Unusual
brachydactyly in a child with duplication-deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes? Clin Genet 51:357-360. 6. Rauch A, Trautmann U, Singer H, Kevekordes B, Dörr H G, Pfeiffer R A (1997): Zur
Diagnostik des Williams-Beuren-Syndroms. Monatsschr Kinderheilkd. 145:1066-1070. 5. Rauch A, Pfeiffer R A, Trautmann U (1996): Deletion or triplication of the α3(VI)
collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders. Clin Genet 49:279-285. 4. Rauch A, Trautmann U, Pfeiffer R A (1996): Clinical and Molecular Cytogenetic
Observations in Three Cases of „Trisomy 12p Syndrome“. Am J Med Genet 63:243-249. 3. Liehr T, Rautenstrauss B, Grehl H, Bathke K D, Ekici A, Rauch A, Rott H D (1996):
Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. Hum Genet 98:22-28. 2. Rauch A, Trautmann U, Pfeiffer R A (1995): Deletion 3p25-pter als eine wenig
bekannte Ursache der syndromalen kongenitalen Blepharoptose. Monatsschr Kinderheilkd 143:979-982. Promotion
1. Rauch A, Pfeiffer R A, Trautmann U, Liehr T, Rott H D, Ulmer R (1992): A study of
ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH). Clin Genet 42:84-90. Prof. Dr. med. Anita Rauch, Publikationsverzeichnis Seite 10 B) Übersichtsartikel
4. Reis A, Rauch A (2009) Chromosomale Ursachen mentaler Retardierung. Medizinische
3. Rauch A (2008) Molekulare Karyotypisierung in der klinischen Diagnostik.
2. Rauch A, Dörr HG (2007) Chromosome 5q subtelomeric deletion syndrome. Seminars
1. Hofbeck M, Rauch A, Leipold G, Singer H (1998): Pulmonary atresia and ventricular
septal defect. Progress in Pediatric Cardiology, 9:113-118. C) Buchartikel
3. Rauch A, Hofbeck M (2005): „Herzfehlbildungen“ in Ganten D und Ruckpaul K (Hrsg.) Molekularmedizinische Grundlagen von fetalen und neonatalen Erkrankungen, Springer Verlag, Heidelberg. 2. Rauch A (2002): „Epithelial Cells from Buccal Smears and Urine“ und „Human Sperm Cells“ in Rautenstrauß B, Liehr T (Hrsg.): FISH Technology, Lab Manual, Springer Verlag, Heidelberg. 1. Opitz JM, Rauch A (1999): Von der befruchteten Eizelle zum Menschen: genetische Defekte als Schlüssel zum Verständnis der Funktion menschlicher Gene. Seiten 237-254 in Ganten D u. a. (Hrsg.): Gene, Neurone, Qubits & Co. Unsere Welten der Information. Gesellschaft Deutscher Naturforscher und Ärzte, Hirzel Verlag, Stuttgart.


"la performatividad o la técnica de la construcción de la subjetividad"

La performatividad o la técnica de la construcción de la subjetividad Se puede hablar de performatividad desde distintos puntos de vista. Dos de ellos han sido abordados en trabajos anteriores: la performatividad como instauración de sentido y la performatividad como legitimación de las condiciones objetivas del mundo. Retomaremos brevemente aquí esos planteos ya que los consideramo

Handbook farmaci

UK NEQAS V.E.Q. FARMACI, TOSSICOLOGIA E DROGHE D’ABUSO United Kingdom National External Quality Assessment Schemes Manuale Programmi 2002 HEATHCONTROL UK NEQAS for DRUG ASSAY CPA ACCREDITED Department of Pharmacology , Therapeutics & Toxicology University of Wales-College of Medicine HEATH PARK , CARDIFF CF4 4XN UNITED KINGDOM Telefono: (+44) 29 2048 9002 (+44) 29 204

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