J. Kohlhase

J. Kohlhase, M. Hartmann, E. Hadaschik, 2015, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene.

M. Schaller, T. Biedermann, M. Röcken, 2006, Acta dermato-venereologica.

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

D. Horn, B. Lorenz, D. Wieczorek, 2005, European journal of medical genetics.

A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis

T. Liehr, B. Zoll, P. Burfeind, 2002, Cytogenetic and Genome Research.

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

E. Bongers, L. Opitz, J. Schoumans, 2014, Human Genetics.

SALL3, a new member of the human spalt-like gene family, maps to 18q23.

W. Schulz-Schaeffer, W. Engel, J. Kohlhase, 1999, Genomics.

Molecular Modeling of c2h2 Zinc Finger Mutation of Putative Human Transcription Factor SALL4

S. Miertus, BioChem Press, J. Kohlhase, 2004 .

SALL1 mutations in sporadic Townes–Brocks syndrome are of predominantly paternal origin without obvious paternal age effect

J. Böhm, J. Kohlhase, S. Munk-Schulenburg, 2006, American journal of medical genetics. Part A.

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

W. Reardon, K. Devriendt, O. Gabrielli, 1999, American journal of human genetics.

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

W. Engel, J. Kohlhase, U. Froster, 1998, Nature Genetics.

Next-generation sequencing in X-linked intellectual disability

P. Bauer, C. Evers, C. Schroeder, 2015, European Journal of Human Genetics.

Epilepsy in Aicardi-Goutières syndrome.

L. Maillard, T. Bast, M. Ergun, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

M. Zenker, C. Kratz, J. Beygo, 2020, British Journal of Cancer.

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

P. Marynen, H. Van Esch, C. Spaich, 2009, American journal of human genetics.

Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome

J. Kohlhase, Oliver Bartsch, Jürgen Kohlhase, 2007, European Journal of Human Genetics.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Reinhard Ullmann, Juliane Hoyer, Arif B Ekici, 2011, BMC Medical Genetics.

Alu‐Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype–phenotype correlations in VHL patients

H. Neumann, G. Scherer, J. Kohlhase, 2009, Human mutation.

Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients

M. Hüll, K. Schmidtke, J. Beckervordersandforth, 2009, Journal of Neurology.

A family with Duane anomaly and distal limb abnormalities: A further family with the arthrogryposis‐ophthalmoplegia syndrome

W. Newman, A. Fryer, E. McCann, 2005, American journal of medical genetics. Part A.

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

P. Burfeind, J. Kohlhase, S. Pauli, 2012, Clinical genetics.

Failure of ossification of the occipital bone in mandibuloacral dysplasia type B

D. Lipsker, A. Verloes, J. Kohlhase, 2016, American journal of medical genetics. Part A.

Can hair be used to screen for breast cancer?

A. Bottani, S. Bordin, J. P. Vasconcellos, 2000, Journal of medical genetics.

Pilomatricomas in Rubinstein‐Taybi syndrome

H. Gollnick, J. Kohlhase, D. Göppner, 2015, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

P. Bauer, M. Reuter, A. Reis, 2016, Journal of Medical Genetics.

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

K. Buysse, J. Clayton-Smith, G. Mortier, 2011, American journal of medical genetics. Part A.

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

J. McGrath, C. Has, G. Zambruno, 2006, The Journal of investigative dermatology.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

D. Horn, B. Gener, D. Lev, 2012, American journal of human genetics.

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

C. Mercer, D. Wieczorek, Harris Morrison, 2012, Human molecular genetics.

A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.

C. Has, J. Kohlhase, L. Bruckner-Tuderman, 2015, The Journal of investigative dermatology.

Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes–Brocks syndrome

A. Kispert, J. Kohlhase, A. Buck, 2001, Mechanisms of Development.

SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway.

Christian Wilhelm, J. Böhm, J. Kohlhase, 2006, Biochemical and biophysical research communications.

SALL 1 including the putative transcription factor gene 16 q 11 . 2-16 q 21 large de novo interstitial deletion Clinical and molecular cytogenetic studies of a

R. Chaoui, H. Knoblauch, S. Tinschert, 2022 .

Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome.

D. Mitter, M. Ziemer, J. Kohlhase, 2016, JAMA dermatology.

Animal Cytogenetics and Comparative Mapping

J. Kohlhase, M. Liebers, L. Archangelo, 2002 .

A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome

A. Amoroso, S. Miertus, J. Kohlhase, 2006, Human Genetics.

Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids

L. Lampe, M. Schroeter, T. Kraya, 2019, Molecular genetics & genomic medicine.

Spongiform encephalopathy in siblings with no evidence of protease-resistant prion protein or a mutation in the prion protein gene

M. Faist, K. Kallenberg, D. Varges, 2013, Journal of Neurology.

Human transmissible spongiform encephalopathies.

R. Paschke, S. Dave, F. Lammert, 1998, Releve epidemiologique hebdomadaire.

Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex.

B. Hartmann, C. Has, J. Kohlhase, 2017, The Journal of investigative dermatology.

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

B. Shields, M. Weedon, A. Hattersley, 2013, Journal of Medical Genetics.

Lethal Junctional Epidermolysis Bullosa with Pyloric Atresia due to Compound Heterozygosity for Two Novel Mutations in the Integrin β4 Gene

J. Wirbelauer, J. Kohlhase, H. Hamm, 2011, Klinische Pädiatrie.

Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation

P. Beighton, C. Kubisch, G. Borck, 2010, American journal of medical genetics. Part A.

Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.

C. Has, Claus-Werner Franzke, J. Kohlhase, 2010, The Journal of investigative dermatology.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt‐Oram and ulnar‐mammary syndromes

M. Bamshad, E. Seemanová, J. Kohlhase, 2006, American journal of medical genetics. Part A.

S. Nelson, M. Reuter, J. Martinez-Agosto, 2021, Orphanet Journal of Rare Diseases.

Single Amino Acid Deletion in Kindlin-1 Results in Partial Protein Degradation Which Can Be Rescued by Chaperone Treatment.

J. Dengjel, C. Has, Kerstin Thriene, 2016, The Journal of investigative dermatology.

A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome.

C. Herz, C. Has, J. Kohlhase, 2008, Journal of dermatological science.

Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.

M. del Río, Marta García, María José Escamez, 2014, The Journal of investigative dermatology.

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

K. Huoponen, M. Pöyhönen, C. Saloranta, 2007, Genetics in Medicine.

Kidney failure in Townes–Brocks syndrome: An under recognized phenomenon?

W. Reardon, R. Birkenhäger, J. Kohlhase, 2007, American journal of medical genetics. Part A.

Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins

J. Kohlhase, B. Blaumeiser, W. Borozdin, 2008, American journal of medical genetics. Part A.

Extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis.

R. Happle, C. Has, J. Kohlhase, 2014, Acta dermato-venereologica.

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

T. Eggermann, M. Zenker, C. Kratz, 2020, British Journal of Cancer.

The HNF 4 A R 76 W

B. Shields, M. Weedon, A. Hattersley, 2014 .

Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene

J. Kohlhase, B. Kaplan, A. Salerno, 2000, Pediatric Nephrology.

An Emerging 1q21.1 Deletion-Associated Neurodevelopmental Phenotype

L. Basel‐Vanagaite, J. Kohlhase, D. Böhm, 2011, Journal of child neurology.

Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex.

Yow-Ren Chang, C. Has, J. Kohlhase, 2006, The Journal of investigative dermatology.

Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.

C. Has, J. Kohlhase, L. Bruckner-Tuderman, 2014, The Journal of investigative dermatology.

Hereditary fructose intolerance

Jeroen J. Bax, R. Paschke, S. Dave, 2020, Definitions.

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

W. Reardon, J. Clayton-Smith, R. Winter, 2004, Journal of Medical Genetics.

Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome.

A. Bottani, P. Burfeind, J. Kohlhase, 1999 .

Hoffman syndrome: New patients, new insights

U. Sack, L. Bird, V. Schuster, 2011, American Journal of Medical Genetics. Part A.

Cerebellar Involvement in DYT-THAP1 Dystonia

C. Hartmann, S. Groiss, A. Schnitzler, 2019, The Cerebellum.

Absent optic chiasm presenting with horizontal nystagmus.

E. FitzGibbon, B. Brooks, J. Kohlhase, 2010, Journal of pediatric ophthalmology and strabismus.

J. Kohlhase, 2007 .

Intracerebral hemorrhage in a young man

S. Coutts, J. Kohlhase, A. Innes, 2011, Canadian Medical Association Journal.

Late‐onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII

H. Gollnick, M. Leverkus, C. Has, 2011, The British journal of dermatology.