Publications

List of Publications 2000

A Novel Form of "Central Pouchlike" Cataract, with Sutural Opacities, Maps to Chromosome 15q21-22.
Vanita, Singh JR, Sarhadi VK, Singh D, Reis A, Rueschendorf F, Becker-Follmann J, Jung M, Sperling K.
Am J Hum Genet. 2000 Dec 21 [epub ahead of print]

A major susceptibility locus for atopic dermatitis maps to chromosome 3q21.
Lee YA, Wahn U, Kehrt R, Tarani L, Businco L, Gustafsson D, Andersson F, Oranje AP, Wolkertstorfer A, Berg Av, Hoffmann U, Kuster W, Wienker T, Ruschendorf F, Reis A.
Nat Genet. 2000 Dec;26(4):470-3. No abstract available.

A European study on the genetics of mite sensitization.
Kurz T, Strauch K, Heinzmann A, Braun S, Jung M, Ruschendorf F, Moffatt MF, Cookson WO, Inacio F, Ruffilli A, Nordskov-Hansen G, Peltre G, Forster J, Kuehr J, Reis A, Wienker TF, Deichmann KA.
J Allergy Clin Immunol. 2000 Nov;106(5 Pt 1):925-932.

Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15.
Stober G, Saar K, Ruschendorf F, Meyer J, Nurnberg G, Jatzke S, Franzek E, Reis A, Lesch KP, Wienker TF, Beckmann H.
Am J Hum Genet. 2000 Nov;67(5):1201-7.

Genomewide scan in german families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13.
Lee YA, Ruschendorf F, Windemuth C, Schmitt-Egenolf M, Stadelmann A, Nurnberg G, Stander M, Wienker TF, Reis A, Traupe H.
Am J Hum Genet. 2000 Oct;67(4):1020-4.

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
Am J Hum Genet 66:1979-1983 (2000)

Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease
Kroiss S, Huck K, Berthold S, Rüschendorf F, Scolari F, Caridi G, Ghiggeri GM, Hildebrandt F, Fuchshuber A
Nephrol Dial Transplant 2000 Jun;15(6):818-21

Homozygosity mapping in a family with microcephaly, mental retardation and short stature to a Cohen syndrome region on 8q21.3 - 8q22.1: redefining a clinical spectrum
Horn D, Krebsová A, Sperling K, Kunze J, Reis A
Am J Med Genet, 92:285-292 (2000)

Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21)
Kunst H, Marres H, Huygen P, van Duijnhoven G, Krebsova A, van der Velde S, Reis A, Cremers F, Cremers C
Clin Otolaryngol 25:45-54 (2000)

Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria
Langen H, von Kietzell D, Byrd D, Arslan-Kirchner M, Vester U, Stuhrmann M, Dörk T, Saar K, Reis A, Schmidtke J, Brodehl J
Pediatr Nephrol 14:376-84 (2000)

A gene for autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23
Lee YA, Stevens HP, Delaporte S, Wahn U, Reis A
Am J Hum Genet 66:326-330 (2000)

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree,
Omran H, Fernandez C, Jung M, Häffner K, Fargier B, Villaquiran A, Waldherr R, Gretz N, Brandis M, Rüschendorf F, Reis A, Hildebrandt F
Am J Hum Genet 66:118-127 (2000)

Genome search for susceptibility loci of common idiopathic generalised epilepsies
Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A, Zara F, Luna D, Bulteau C, Kaminska A, Ville D, Cieuta C, Picard F, Prud'homme JF, Bate L, Sundquist A, Gardiner RM, Janssen GAMAJ, de Haan GJ, Kasteleijn-Nolst-Trenité DGA, Bader A, Lindhout D, Riess O, Wienker TF, Janz D, Reis A
Hum Mol Genet 9:1465-1472 (2000)

Mutations in the gene coding for the serine protease inhibitor, Kazal type 1 (SPINK1) are associated with chronic pancreatiti,
Witt H, Luck, W, Hennies HC, Claßen M, Kage A, Laß U, Landt O, Becker M,
Nature Genet 25:213-216 (2000)

List of Publications 1999

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B
Bittner RE, Anderson LVB, Burkhardt E, Bashir R, Vafiadaki E, Ivanova S, Maerk I, Höger H, Jung M, Storch M, Lassmann H, Moss JA, Davison K, Harrison R, Bushby KMD & Reis A
Nature Genet 23:141-142 (1999)

Mutation in the ßA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse
Graw J, Jung M, Löster J, Klopp N, Soewarto D, Fella C, Fuchs H, Reis A, Wolf E, Balling R, Hrabé de Angelis M
Genomics 62:67-73 (1999)

Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21,
Grohmann K, Wienker TF, Saar K, Rudnik-Schöneborn S, Stoltenburg-Didinger G, Rossi R, Novelli G, Nürnberg G, Pfeufer A, Wirth B, Reis A, Zerres K, Hübner C
Am J Hum Genet 65:1459-1462 (1999)

Promoter polymorphism at -238 of the tumor necrosis factor alpha gene is not associated with early onset psoriasis when tested by the transmission disequilibrium test
Jacob N, Rüschendorf F, Schmitt-Egenolf M, Hennies HC, Friedl G, Ständer M, Wienker TF, Reis A, Traupe H
J Invest Dermatol 112:514-516 (1999)

A family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22,
Jung M, Poepping I, Perrot A, Ellmer AE, Wienker TF, Dietz R, Reis A & Osterziel KJ
Am J Hum Genet, 65:1068-1077 (1999)

Hereditary isolated renal magnesium loss maps to chromosome 11q23
Meij IC, Saar K, van den Heuvel LPWJ, Nürnberg G, Vollmer M, Hildebrandt F, Reis A,
Am J Hum Genet 64:180-188 (1999)

Envoplakin, a possible candidate gene for focal NEPPK/Esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25
Risk JM, Ruhrberg C, Hennies H, Mills HS, Di Colandrea T, Evans KE, Ellis A, Watt FM, Bishop DT, Spurr NK, Stevens HP, Leigh IM, Reis A, Kelsell DP, Field JK
Genomics 59:234-42 (1999)

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity
Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur-E-Kamal M, Reis A, Bayoumi R
Am J Hum Genet 65:1666-1671(1999)

Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14
Sander T, Schulz H, Vieira-Saeker AM, Bianchi A, Sailer U, Bauer G, Scaramelli A, Wienker TF, Saar K, Reis A, Janz D, Epplen JT, Riess O
Am J Med Genet 88:182-187 (1999)

Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia
Stevens HP, Choon, SE, Hennies HC, Kelsell DP
Brit J Dermatol 140:963-964 (1999)

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27
van Bokhoven H, Jung M, Smits APT, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings JHAM, Mariman ECM, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BCJ
Am J Hum Genet 64:538-546 (1999)

The Fanconi anemia group E gene, FANCE, maps to chromosome 6p
Waisfisz Q, Saar K, Morgan NV, Altay C, Leegwater PA, de-Winter JP, Komatsu K, Evans GR, Wegner RD, Reis A, Joenje H, Arwert F, Mathew CG, Pronk JC, Digweed M
Am J Hum Genet 64:1400-1405 (1999)

A Genome-wide Search for Linkage to Asthma
Wjst M, Fischer G, Immervoll T, Jung M, Saar K, Rueschendorf F, Reis A, Ulbrecht M, Gomolka M, Weiss EH, Jaeger L, Nickel R, Richter K, Kjellman NM, Griese M, von Berg A, Gappa M, Riedel F, Boehle M, van Koningsbruggen S, Schoberth P, Szczepanski R, Dorsch W, Silbermann M, Loesgen S, Scholz M, Bickeboller H, Wichmann HE
Genomics 58:1-8 (1999)

List of Publications 1998

Gene localisation for an autosomal dominant familial periodic fever to 12p14,
Mulley J, Saar K, Hewitt G, Rüschendorf F, Phillips H, Colley A, Sillence D, Reis A, Wilson M,
Am J Hum Genet 62(4) (1998) 884-889

Febrile seizures and generalised epilepsy associated with mutations in the sodium channel subunit SCN1B,
Wallace RH, Singh R, Scheffer IE, George ALJr, Phillips HA, Saar K, Reis A, Sutherland GR, Berkovic SF, Mulley JC
Nature Genet 19 (1998) 366-370

The gene for human fibronectin glomerulopathy (GFND) maps to 1q32 in the region of the regulator of complement activation (RCA) gene cluster
Vollmer M, Jung M, Rü F, Ruf R, Wienker T, Reis A, Krapf R, Hildebrandt F
Am J Hum Genet 63(6) (1998) 1724-1731

List of Publications 1997

Chrzanowska K, Stumm M, Bialecka M, Saar K, Bernatowska-Matuszkiewicz E, Michalkiewicz J, Barszcz S, Reis A and Wegner RD, Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient, Clin Genet 51 (1997) 309-313

Laass MW, Hennies HC, Preis S, Stevens HP, Jung M, Leigh IM, Wienker TF and Reis A, Localisation of a gene for Papillon-Lefè syndrome to chromosome 11q14-q21 by homozygosity mapping, Hum Genet 101 (1997) 376-382

Robinson RI, Monnier N, Wolz W, Jung M, Reis A, Nürnberg G, Curran Jl, Monsieurs K, Stieglitz P, Heytens L, Fricker R, Vanbroeckhoven C, Deufel T, Hopkins PM, Lunardi J and Mueller CR, A genome wide search for susceptibility loci in three european malignant hyperthermia pedigrees, Hum Mol Genet 6 (1997) 953-961

Saar K, Chrzanowska KH, Stumm M, Jung M, Nürnberg G, Wienker TF, Seemanova E, Wegner RD, Reis A and Sperling K, The gene for the ataxia telangiectasia variant, nijmegen breakage syndrome, maps to a 1 cm interval on chromosome 8q21, Am J Hum Genet 60 (1997) 605-610

Starfield M, Hennies HC, Jung M, Jenkins T, Wienker TF, Hull P, Spurdle A, Küster W, Ramsay M and Reis A, Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in south african afrikaans-speakers, Am J Hum Genet 61 (1997) 370-378

List of Publications 1996

Kelsell DP, Risk JM, Leigh IM, Stevens HP, Ellis A, Hennies HC, Reis A, Weissenbach J, Bishop DT, Spurr NK and Field JK, Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC), Hum Mol Genet 5 (1996) 857-860

Weber A, Wienker TF, Jung M, Easton D, Dean HJ, Heinrichs C, Reis A and Clark AJL, Linkage of the gene for the triple a syndrome to chromosome 12q13 near the type II keratin gene cluster, Hum Mol Genet 5 (1996) 2061-2066