Publications 2007

Mühle C, Zenker M, Chuzhanova N, Schneider H:(2007)Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A.Hum Mutat. 2007;28(10): 1045
Sauerstein K, Schroth M, Amann K, Hoyer J, Singer H, Rauch A, Dötsch J:(2007)Pulmonary embolism-a rare complication of Schimke immunoosseous dysplasia.Eur J Pediatr. 2007;166(12): 1285-8
Melichar VO, Guth S, Hellebrand H, Meindl A, von der Hardt K, 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. 2007;143(2): 135-41
Wimplinger I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K:(2007)Mother 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. 2007;50(6): 421-31
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 autosomalAm J Med Genet A. 2007;143(12): 1268-81
Rauch A, Dörr HG:(2007)Chromosome 5q subtelomeric deletion syndrome.Am J Med Genet C Semin Med Genet. 2007;145(4): 372-6
de Vries ACH, Stam RW, Kratz C, Zenker M, Haas OA, van Wering E, Zwaan CM, Locatelli F, Zecca M, Hasle H, Stary J, Niemeyer CM, Van Den Heuvel MM:(2007)BRAF mutations in juvenile myelomonocytic leukemia.Blood. 2007;110(11): 222B-223B
Burkhardt H, Hüffmeier U, Konig I, Lascorz J, Wendler J, Lohmann J, Reich K, Reis A:(2007)TNF polymorphisms in psoriasis: Association of psoriatic arthritis with the promoter polymorphism TNF-857 independent of the PSORS1 risk alleleAnn Rheum Dis. 2007;66 Suppl. (): 127-127
Liehr T, Utine GE, Trautmann U, Rauch A, Kuechler A, Pietrzak J, Bocian E, Kosyakova N, Mrasek K, Boduroglu K, Weise A, Aktas D:(2007)Neocentric small supernumerary marker chromosomes (sSMC) - three more cases and review of the literature (vol 118, pg 31, 2007)Cytogenet Genome Res. 2007;119(1-2): 170-170
Ruddy D, Wyuts W, Reardon W, Zenker M, Trembath R:(2007)Clinical and molecular analysis of Adams oliver spectrum of disorders: A European studyJ Med Genet. 2007;44 Suppl. (): S74-S74
Sousa S, Cabral A, Zweier C, Venancio M, Rauch A, Saraiva J:(2007)Pitt-Hopkins syndrome - clinical reportJ Med Genet. 2007;44 Suppl. (): S30-S30
Reich K, Hüffmeier U, König IR, Lascorz J, Lohmann J, Wendler J, Traupe H, Mossner R, Reis A, Burkhardt H:(2007)Tumor necrosis factor polymorphisms in psoriatic arthritis: association with the promoter polymorphism TNF-857 independent of the PSORS1 risk alleleArthritis Res Ther. 2007;9 Suppl. 3(): -
Endele S, Klein S, Richter S, Molter T, Amann K, Klanke B, Witzgall R, Johnson RL, Hilgers KF, Winterpacht A:(2007)Renal phenotype in heterozygous Lmx1b knockout mice (Lmx1b (+/-)) after unilateral nephrectomy.Transgenic Res. 2007;16(6): 723-9
Weiss FU, Zenker M, Simon P, Lerch MM:(2007)Frequent PRSSI R122h mutations in westphalia (Germany) do not result from a founder effectGastroenterology. 2007;132 Suppl.(4): A468-A468
De Vries A, Stam RW, Kratz CP, Zenker M, Haas OA, van Wering ER, Zwaan CM, Locatelli F, Zecca M, Hasle H, Stary J, Niemeyer CM, van den Heuvel-Eibrink MM:(2007)BRAF mutations in juvenile myelomonocytic leukemiaHaematologica. 2007;92 Suppl.(): 356-356
Apitz C, Schafer J, Baden W, Sieverding L, Kerst G, Rauch A, Kraus C, Hofbeck M:(2007)Pulmonary arterial aneurysms and hemoptysis - Rare complications in a small child with elastin gene mutation and peripheral pulmonary stenosisKlin Padiatr. 2007;219(2): 106-106
Rettinger T, Zenker M, Dahlem P:(2007)Congenital myotonus dystrophy type 1Klin Padiatr. 2007;219(2): 106-106
Gassmann KF, Simm D, Rauch A, Lüdecke HJ, Dörr HG:(2007)Genetic dwarfism: 2 children with trichorhinopharyngeal syndrome type 1Klin Padiatr. 2007;219(2): 116-116
de Vries ACH, Stam RW, Kratz CP, Zenker M, Haas OA, van Wering ER, Zwaan M, Locatelli F, Zecca M, Hasle H, Stary J, Niemeyer CM, van den Heuvel-Eibrink MM, EWOG-MDS:(2007)BRAF mutations in juvenile myelomonocytic leukemiaLeuk Res. 2007;31 Suppl.(): S83-S83
Muscheites J, Drueckler E, Wigger M, Kreutzer H, Zenker M, Schulze-Schwering M, Haffner D:(2007)Congenital nephrotic syndrome due to Pierson syndromePediatr Nephrol. 2007;22(9): 1511-1511
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. 2007;143(13): 1528-30
Zweier C, Sticht H, Aydin-Yaylagül I, 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. 2007;80(3): 510-7
Bergner CC, Krause FS, Zugor V, Rith T, Schrott KM, Endele S, Engehausen DG:(2007)Polymorphisms of human estrogen receptor (ER) gene alpha and beta in prostate cancer PC-EW and PC-OR cell lines.Anticancer Res. 2007;27(4A): 2071-4
Reich K, Hüffmeier U, König IR, Lascorz J, Lohmann J, Wendler J, Traupe H, Küster W, Moessner R, Reis A, Burkhardt H:(2007)TNF, LTA and TNF receptor polymorphisms in psoriasis vulgaris and psoriatic arthritis: Evidence for an association of psoriatic arthritis with the promoter polymorphism TNF-857 independent of the PSORS1 risk alleleExp Dermatol. 2007;16(3): 204-205
Burkhardt H, Hüffmeier U, Konig I, Lacorz J, Reis A, Reich K:(2007)Association of psoriatic arthritis with the promoter polymorphism TNF-857Inflamm Res. 2007;56 Suppl.(): S405-S405
Mazanec R, Vyhnalkova E, Hühne K, Malikova M, Böhm J, Souckova I, Simurda J, Rautenstrauss B, Bojar M, Seeman P:(2007)New NEFL gene mutations in two Czech cmt families with early onset axonal neuropathyJ Peripher Nerv Syst. 2007;12 Suppl.(): 58-58
Burkhardt H, Reich K, Hüffmeier U, Lohmann J, Konig I, Wendler J, Lascorz J, Reis A:(2007)TNF polymorphisms in psoriasis: Association of psoriatic arthritis with the promoter polymorphism TNF-857 independent of the PSORS1 risk alleleZ Rheumatol. 2007;66 Suppl.(): 40-40
Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nurnberg P, Reis A, 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. 2007;80(3): 550-60
Pullig O, Tagariello A, Schweizer A, Swoboda B, Schaller P, Winterpacht A:(2007)MATN3 (matrilin-3) sequence variation (pT303M) is a risk factor for osteoarthritis of the CMC1 joint of the hand, but not for knee osteoarthritis.Ann Rheum Dis. 2007;66(2): 279-80
Reich K, Hüffmeier U, König IR, Lascorz J, Lohmann J, Wendler J, Traupe H, Mossner R, Reis A, Burkhardt H:(2007)TNF polymorphisms in psoriasis: association of psoriatic arthritis with the promoter polymorphism TNF*-857 independent of the PSORS1 risk allele.Arthritis Rheum. 2007;56(6): 2056-64
Oezbey S, Stengel C, Schlotzer-Schrehardt U, Ekici A, Rautenstrauss B:(2007)Heterologous expression of wildtype and mutant myocilin in High Five insect cells shows comparable effects to cultivated trabecular meshwork cells.Biomol Eng. 2007;24(3): 313-7
Liehr T, Utine GE, Trautmann U, Rauch A, Kuechler A, Pietrzak J, Pietracz J, Bocian E, Kosyakova N, Mrasek K, Boduroglu K, Weise A, Aktas D:(2007)Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature.Cytogenet Genome Res. 2007;118(1): 31-7
Hüffmeier U, Tietze HU, Rauch A:(2007)Severe skeletal dysplasia caused by undiagnosed hypothyroidism.Eur J Med Genet. 2007;50(3): 209-15
Tönnies H, Pietrzak J, Bocian E, MacDermont K, Kuechler A, Belitz B, Trautmann U, Schmidt A, Schulze B, Rodríguez L, Binkert F, Yardin C, Kosyakova N, Volleth M, Mkrtchyan H, Schreyer I, von Eggeling F, Weise A, Mrasek K, Liehr T:(2007)New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank.J Histochem Cytochem. 2007;55(6): 651-60
Hüffmeier U, Traupe H, Oji V, Lascorz J, Ständer M, Lohmann J, Wendler J, Burkhardt H, Reis A:(2007)Loss-of-function variants of the filaggrin gene are not major susceptibility factors for psoriasis vulgaris or psoriatic arthritis in German patients.J Invest Dermatol. 2007;127(6): 1367-70
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, Nurnberg P, Reis A, Rauch A:(2007)Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.J Med Genet. 2007;44(10): 629-36
Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, 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. 2007;44(10): 651-6
Kratz CP, Niemeyer CM, Thomas C, Bauhuber S, Matejas V, Bergsträsser E, Flotho C, Flores NJ, Haas O, Hasle H, van den Heuvel-Eibrink MM, Kucherlapati RS, Lang P, Roberts AE, Stary J, Strahm B, Swanson KD, Trebo M, Zecca M, Neel B, Locatelli F, Loh ML, Zenker M:(2007)Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia.Leukemia. 2007;21(5): 1108-9
Crisponi L, Crisponi G, Meloni A, Toliat MR, Nürnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F:(2007)Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.Am J Hum Genet. 2007;80(5): 971-81
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 RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A:(2007)Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).Am J Hum Genet. 2007;80(5): 994-1001
Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A:(2007)Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.Am J Hum Genet. 2007;81(3): 519-29
Kraus C, Reis A, Naehrlich L, Dötsch J, Korbmacher C, Rauh R:(2007)Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis.Cell Physiol Biochem. 2007;19(5-6): 239-48
Vermeesch JR, Fiegler H, de Leeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, van Ravenswaaij C, Sanlaville D, Patsalis PC, Firth H, Devriendt K, Zuffardi O:(2007)Guidelines for molecular karyotyping in constitutional genetic diagnosis.Eur J Hum Genet. 2007;15(11): 1105-14
Zenker M, Voss E, Reis A:(2007)Mild variable Noonan syndrome in a family with a novel PTPN11 mutation.Eur J Med Genet. 2007;50(1): 43-7
Aigner T, Rau T, Niederhagen M, Zaucke F, Schmitz M, Pohls U, Stöss H, Rauch A, Thiel CT:(2007)Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype.Pediatr Dev Pathol. 2007;10(4): 328-34
Rutsch F, Crisponi L, Meloni A, Toliat MR, Nürnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marangiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurenberg P, Crisponi G:(2007)Crisponi syndrome and cold-induced sweating syndrome type 1: Two faces of the same coinJ Inherit Metab Dis. 2007;30 Suppl.(): 142-142
Cano DA, Hebrok M, Zenker M:(2007)Pancreatic development and disease.Gastroenterology. 2007;132(2): 745-62
de Vries AC, Stam RW, Kratz CP, Zenker M, Niemeyer CM, van den Heuvel-Eibrink MM, European Working Group on childhood MDS (EWOG-MDS):(2007)Mutation analysis of the BRAF oncogene in juvenile myelomonocytic leukemia.Haematologica. 2007;92(11): 1574-5
Kratz CP, Steinemann D, Niemeyer CM, Schlegelberger B, Koscielniak E, Kontny U, Zenker M:(2007)Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.Hum Mol Genet. 2007;16(4): 374-9
Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K:(2007)Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.J Med Genet. 2007;44(2): 131-5
van der Burgt I, Kupsky W, Stassou S, Nadroo A, Barroso C, Diem A, Kratz CP, Dvorsky R, Ahmadian MR, Zenker M:(2007)Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation.J Med Genet. 2007;44(7): 459-62
Karow A, Steinemann D, Göhring G, Hasle H, Greiner J, Harila-Saari A, Flotho C, Zenker M, Schlegelberger B, Niemeyer CM, Kratz CP:(2007)Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.Leukemia. 2007;21(6): 1303-5
Schubbert S, Bollag G, Lyubynska N, Nguyen H, Kratz CP, Zenker M, Niemeyer CM, Molven A, Shannon K:(2007)Biochemical and functional characterization of germ line KRAS mutations.Mol Cell Biol. 2007;27(22): 7765-70
Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F, Arbeitsgemeinschaft für Paediatrische Nephrologie Study Group:(2007)Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).Pediatrics. 2007;119(4): e907-19
Bauters M, Van Esch H, Friez M, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Ignatius J, Raynaud M, Hollanders K, Vandenreijt K, Blanc P, Moraine C, Stevenson R, Marynen P, Fryns JP, Schwartz C, Froyen G:(2007)Complex genomic architecture at XQ28 results in duplication of MECP2 commonly found in a specific subset of MR patientsCell Oncol. 2007;29(2): 108-108
Van den Heuvel-Eibrink M, De Vries A, Stam R, Kratz C, Zenker M, Haas O, van Wering E, Zwaan M, Locatelli F, Zecca M, Hasle H, Stary J, Niemeyer C:(2007)BRAF mutations in juvenile myelomonocytic leukemiaPediatr Blood Cancer. 2007;49(4): 577-577
Wühl E, Kogan J, Zurowska A, Matejas V, VanDeVoorde RG, Aigner T, Wendler O, Lesniewska I, Bouvier R, Reis A, Weis J, Cochat P, Zenker M:(2007)Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome.Am J Med Genet A. 2007;143(4): 311-9
Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M:(2007)Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.Am J Med Genet A. 2007;143(3): 241-7
Schmidt WM, Kraus C, Höger H, Hochmeister S, Oberndorfer F, Branka M, Bingemann S, Lassmann H, Muller M, Macedo-Souza LI, Vainzof M, Zatz M, Reis A, Bittner RE:(2007)Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.EMBO Rep. 2007;8(7): 691-7
Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G:(2007)Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).Neuromuscul Disord. 2007;17(8): 624-30

Publications 2007

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