W. Borozdin

发表

Molecular Pathogenesis of Genetic and Inherited Diseases Sall 1 , Sall 2 , and Sall 4 Are Required for Neural Tube Closure in Mice

W. Wurst, W. Schulz-Schaeffer, I. Adham, 2010 .

Sall1, sall2, and sall4 are required for neural tube closure in mice.

W. Wurst, W. Schulz-Schaeffer, I. Adham, 2008, The American journal of pathology.

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

D. Wieczorek, V. Proud, P. Lebon, 2010, Arthritis and rheumatism.

Modeling of c 2 h 2 Zinc Finger Mutation of Putative Human Transcription Factor SALL 4

Amoroso, A. Amoroso, S. Miertus, 2004 .

with Pheochromocytoma and Neurofibromatosis Type 1 Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients NF1 Germline

A. Fassina, V. Mautner, S. Calvieri, 2007 .

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

G. Arnaldi, C. Eng, A. Fassina, 2007, The Journal of clinical endocrinology and metabolism.

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes‐Brocks syndrome

K. Devriendt, B. Albrecht, A. Bottani, 2006, Human mutation.

Clinical Report Tetra-Amelia and Lung Hypo/Aplasia Syndrome: New Case Report and Review

M. Krahn, J. Saraiva, Marta Amorim, 2008 .

Tetra‐amelia and lung hypo/aplasia syndrome: New case report and review

N. Lévy, M. Krahn, J. Kohlhase, 2008, American journal of medical genetics. Part A.

Multigene deletions on chromosome 20q13.13‐q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay

M. Bamshad, J. Graham, J. Kohlhase, 2007, Human mutation.

Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma.

H. Neumann, W. Borozdin, B. Bausch, 2006, The New England journal of medicine.

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

R. Hennekam, Y. Crow, M. Hannibal, 2004, Journal of Medical Genetics.

Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression.

R. Depping, F. Kaiser, J. Böhm, 2007, Biochemical and biophysical research communications.

Expanding the spectrum of TBX5 mutations in Holt‐Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

M. Bamshad, K. Chrzanowska, J. Mcgaughran, 2006, Human mutation.

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.

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

G. Mortier, R. Sandford, Bernhard Steiner, 2008, Nature Genetics.

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

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

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

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

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

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

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.

Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene

E. Tobias, K. Sworczak, J. Kohlhase, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

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.

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.

Forty‐two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort

C. Has, S. Emmert, L. Bruckner-Tuderman, 2009, The British journal of 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.

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.