All Research & Publications will be listed here:
Publications

Boudry-Labis E, Demeer B, Le Caignec C, Isidor B, Mathieu-Dramard M, Plessis G, George AM, Taylor J, Aftimos S, Wiemer-Kruel A, Kohlhase J, Annerén G, Firth H, Simonic I, Vermeesch J, Thuresson AC, Copin H, Love DR, Andrieux J. A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. Eur J Med Genet 2012 Dec 29 [Epub ahead of print]

Schoner K, Kohlhase J, Müller AM, Schramm T, Plassmann M, Schmitz R, Neesen J, Wieacker P, Rehder H. Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. - Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. Prenat Diagn 2013 Jan;33(1):75-80.

Kiritsi D, Pigors M, Tantcheva-Poor I, Wessel C, Arin MJ, Kohlhase J, Bruckner-Tuderman L, Has C. Epidermolysis bullosa simplex ogna revisited. J Invest Dermatol 2013 Jan;133(1):270-3.

Rainger J, Bengani H, Campbell L, Anderson E, Sokhi K, Lam W, Riess A, Ansari M, Smithson S, Lees M, Mercer C, McKenzie K, Lengfeld T, Gener Querol B, Branney P, McKay S, Morrison H, Medina B, Robertson M, Kohlhase J, Gordon C, Kirk J, Wieczorek D, Fitzpatrick DR. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Hum Mol Genet. 2012 Sep 15;21(18):3969-83.

Esden-Tempska Z, Lewczuk A, Tobias ES, Borozdin W, Kohlhase J, Sworczak K. Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene. J Pediatr Endocrinol Metab 2012;25(1-2):147-8.

Arnold AW, Kiritsi D, Happle R, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C, Itin PH. Type 1 segmental Galli-Galli disease resulting from a previously unreported keratin 5 mutation. J Invest Dermatol 2012 Aug;132(8):2100-3.

Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D; FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet 2012 Feb 10;90(2):369-77.

Stoevesandt J, Borozdin W, Girschick G, Hamm H, Höcht B, Kohlhase J, Volz A, Wiewrodt B, Wirbelauer J. Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene. Klin Padiatr. 2012 Jan;224(1):8-11.

Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D, Kohlhase J, Itin P, Martin L, Fischer J, Zambruno G, Bruckner-Tuderman L. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.Hum Mutat. 2011 Nov;32(11):1204-12.

Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C. Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet. 2011 Aug 9;12:106.

Kuechler A, Buysse K, Clayton-Smith J, Le Caignec C, David A, Engels H, Kohlhase J, Mari F, Mortier G, Renieri A, Wieczorek D. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. Am J Med Genet A. 2011 Aug;155A(8):1857-64.

Vogt J, Kohlhase J, Morlot S, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H. Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation. Hum Mutat 2011 Jun;32(6):E2134-47.

Pauli S, von Velsen N, Burfeind P, Steckel M, Mänz J, Buchholz A, Borozdin W, Kohlhase J. CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. Clin Genet 2012 Mar;81(3):234-9.

2011

von Bartenwerffer W, Has C, Arin MJ, Tantcheva-Poór I, Kreuter A, Kremer K, Arshah T, Hoffmann M, Eming SA, Kohlhase J, Krieg T, Bruckner-Tuderman L, Hartmann K. Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations. Eur J Dermatol. 2011 Mar-Apr;21(2):170-2.

Kiritsi D, Kern JS, Schumann H, Kohlhase J, Has C, Bruckner-Tuderman L. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. J Med Genet. 2011 Jul;48(7):450-7.

Pigors M, Kiritsi D, Krümpelmann S, Wagner N, He Y, Podda M, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C. Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet. 2011 May 1;20(9):1811-9. doi: 10.1093/hmg/ddr064. Epub 2011 Feb 14.

Leverkus M, Ambach A, Hoefeld-Fegeler M, Kohlhase J, Schmidt E, Schumann H, Has C, Gollnick H. Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII. Br J Dermatol  2011 May;164(5):1104-6.

Basel-Vanagaite L, Goldberg-Stern H, Mimouni-Bloch A, Shkalim V, Böhm D, Kohlhase J. An emerging 1q21.1 deletion-associated neurodevelopmental phenotype. J Child Neurol 2011 Jan;26(1):113-6.

Hügle B, Hoffman H, Bird LM, Gebauer C, Suchowerskyj P, Sack U, Kohlhase J, Schuster V. Hoffman syndrome: New patients, new insights. Am J Med Genet A 2011 Jan;155A(1):149-53.

Coutts SB, Matysiak-Scholze U, Kohlhase J, Innes AM. Intracerebral hemorrhage in a young man. CMAJ 2011 Jan 11;183(1):E61-4.

2010

Has C, Burger B, Volz A, Kohlhase J, Bruckner-Tuderman L, Itin P. Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer. Dermatology. 2010;221(4):309-12.

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 2010 Nov;42(11):1021-6.

Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat 2010 Aug;31(8):E1587-93. doi: 10.1002/humu.21298.

Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. Am J Med Genet A. 2010 Aug;152A(8):2090-3.

Arnold AW, Itin PH, Pigors M, Kohlhase J, Bruckner-Tuderman L, Has C. Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol 2010 Oct;163(4):866-9.

Rothacker D, Winterroth A, Buller M, Vogel M, Zhou H, Kistner G, Gillessen-Kaesbach G, Kohlhase J. [Glycogenosis type IV (Andersen disease). Clinical data, pathology, and genetics in a fatal perinatal case]. Pathologe. 2010 Jul;31(4):293-6

Salchow DJ, Kohlhase J, Miller M, Kadom N, FitzGibbon EJ, Caruso RC, Brooks BP. Absent optic chiasm presenting with horizontal nystagmus. J Pediatr Ophthalmol Strabismus 2010 May-Jun;47(3):187-91.

Simon T, Kohlhase J, Wilhelm C, Kochanek M, De Carolis B, Berthold F. Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. Am J Med Genet A. 2010 Jun;152A(6):1575-9.

Siggberg L, Ala-Mello S, Jaakkola E, Kuusinen E, Schuit R, Kohlhase J, Böhm D, Ignatius J, Knuutila S. Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients. Am J Med Genet A 2010 Jun;152A(6):1398-410.

Mitter D, Chiaie BD, Lüdecke HJ, Gillessen-Kaesbach G, Bohring A, Kohlhase J, Caliebe A, Siebert R, Roepke A, Ramos-Arroyo MA, Nieva B, Menten B, Loeys B, Mortier G, Wieczorek D. Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1. Am J Med Genet A 2010 May;152A(5):1213-24.

Arin MJ, Grimberg G, Schumann H, De Almeida H Jr, Chang YR, Tadini G, Kohlhase J, Krieg T, Bruckner-Tuderman L, Has C. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. Br J Dermatol. 2010 Jun;162(6):1365-9.

Kiritsi D, Cosgarea I, Franzke CW, Schumann H, Oji V, Kohlhase J, Bruckner-Tuderman L, Has C. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. J Invest Dermatol 2010 Jun;130(6):1741-6

Schneider A, Hasan A, Hirschel S, Wilhelm C, Kohlhase J, Falkai P, Gärtner J, Steinfeld R, Wobrock T, Degner D. A novel mutation of the arylsulfatase A gene in late-onset metachromatic leukodystrophy. J Clin Psychiatry 2009 Dec;70(12):1724-5.

Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK, Ungerath K, Walkenhorst H, Richardt HH, Buckard J, Bevot A, Siegel C, von Stülpnagel C, Ikonomidou C, Thomas K, Proud V, Niemann F, Wieczorek D, Häusler M, Niggemann P, Baltaci V, Conrad K, Lebon P, Lee-Kirsch MA. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum 2010 May;62(5):1469-77.



Dear students,
here you will find the lectures and papersfor download.
Molekulare Medizin
Vorlesung Humangenetik für Molekulare Mediziner SS 2013
Vorlesung autosomal dominante und genomische Erkrankungen

Seminar Humangenetik für Molekulare Medizin SS 2013

Seminar Autosomal dominant 1 02.05.2013 (aktuell!)

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Seminar Genomisch 04.07.2013 (Achtung: 15.45h) (Paper jetzt aktuell!)

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Seminar Autosomal dominant 2 06.06.2013 (Paper aktuell!)

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Humanmedizin
Interdiziplinäres integriertes Seminar (Vorklinik)

Teil Humangenetik-Neurologie
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Humangenetik für Mediziner - Klinischer Abschnitt

Kennzeichen Mendel'scher Erbgänge

Vorlesung autosomal dominant/ genomisch WS2007/2008