D. Bornholdt

发表

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

K. Grzeschik, R. Happle, U. Grasshoff, 2007, Nature Genetics.

PORCN mutations in focal dermal hypoplasia: coping with lethality

K. Grzeschik, K. Prescott, R. Happle, 2009, Human Mutation.

First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

Da I Jung, M. Nöthen, I. V. van Rooij, 2022, HGG advances.

Genotype–Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2

K. Grzeschik, A. Mégarbané, R. Happle, 2013, Human mutation.

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

R. Vossen, K. Grzeschik, J. D. den Dunnen, 2010, Human mutation.

Significant association between a silent polymorphism in the neuromedin B gene and body weight in German children and adolescents

K. Grzeschik, J. Hebebrand, A. Hinney, 2000, Acta Diabetologica.

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.

K. Grzeschik, M. Koch, B. Albrecht, 2014, American journal of human genetics.

CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions.

Arne König, K. Grzeschik, R. Happle, 2006, Archives of dermatology.

Mutational spectrum of NSDHL in CHILD syndrome

K. Grzeschik, U. Reinhold, R. Happle, 2005, Journal of Medical Genetics.

A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.

H. Soyer, K. Grzeschik, R. Happle, 2002, Journal of the American Academy of Dermatology.

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.

K. Grzeschik, R. Happle, H. Engel, 2000, American journal of medical genetics.

CHILD Syndrome Caused by a Deletion of Exons 6–8 of the NSDHL Gene

K. Grzeschik, R. Happle, C. Kim, 2005, Dermatology.

A Novel X‐Chromosomal Microdeletion Encompassing Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects

K. Grzeschik, K. Mandal, V. Srivastava, 2013, Pediatric dermatology.

Multiple Familial Trichoepithelioma Caused by Mutations in the Cylindromatosis Tumor Suppressor Gene

K. Grzeschik, R. Happle, F. Oeffner, 2004, Cancer Research.

Point mutations in human GLI3 cause Greig syndrome.

M. Kalff-Suske, K. Grzeschik, A. Wild, 1997, Human molecular genetics.

Nucleotide Sequences of Long Terminal Repeats of the Human Endogenous Retroviruses (LTR HERV-K) on the Short Arm of Chromosome 7: Identification, Map Locations, and Transcriptional Activity

Y. Lebedev, E. Nadezhdin, E. D. Sverdlov, 2003, Russian Journal of Genetics.

Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations

H. Peeters, M. Kalff-Suske, K. Grzeschik, 2003, American journal of medical genetics. Part A.

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

R Rizzo, J Kunze, M. Kalff-Suske, 1999, Human molecular genetics.

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

U. C. Patel, K. Grzeschik, S. Antonarakis, 1999, American journal of human genetics.

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome

B. V. van Bon, K. Grzeschik, R. Happle, 2011, Experimental dermatology.

A NONSENSE PORCN MUTATION IN SEVERE FOCAL DERMAL HYPOPLASIA WITH NATAL TEETH

K. Grzeschik, C. Dias, D. Bornholdt, 2010, Fetal and pediatric pathology.

Gene symbol: GLI3. Disease: Pallister-Hall syndrome.

M. Kalff-Suske, K. Grzeschik, S. Tinschert, 2003, Human genetics.

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.

K. Grzeschik, R. Happle, G. Fischer, 2009, American journal of human genetics.

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

K. Grzeschik, A. Buness, F. Kortüm, 2020, American journal of human genetics.