C. Spaich

发表

Segmental maternal UPD(7q) in Silver–Russell syndrome

T. Eggermann, N. Schoenherr, S. Jäger, 2008, Clinical genetics.

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

S. Gallati, H. Lerche, M. Schubach, 2012, Epilepsia.

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

D. Wieczorek, C. Spaich, E. Seemanová, 2009, European Journal of Human Genetics.

Further delineation of the SATB2 phenotype

M. Schubach, C. Spaich, D. Bartholdi, 2013, European Journal of Human Genetics.

Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.

A. Jauch, M. Baudis, K. Zerres, 2012, The Journal of pediatrics.

Location and type of mutation in the LIS1 gene do not predict phenotypic severity

J. Winkler, U. Bogdahn, G. Schuierer, 2007, Neurology.

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

M. Schubach, C. Spaich, M. Zenker, 2014, European Journal of Human Genetics.

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

S. Sel, C. Spaich, A. Röpke, 2009, American journal of human genetics.

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.

C. Tickle, J. Kapeller, G. Rappold, 2006, Human molecular genetics.

Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 → q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay

C. Spaich, H. Kehrer-Sawatzki, G. Barbi, 2005, American journal of medical genetics. Part A.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

S. Mundlos, H. Kayserili, D. Chitayat, 2013, Molecular genetics and metabolism.

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

J. Opitz, C. Spaich, S. Braddock, 1999, American journal of medical genetics.

Search for uniparental disomy 14 in balanced Robertsonian translocation carriers

T. Eggermann, C. Spaich, G. Uyanik, 1999, Clinical genetics.

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.

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay

Wei Chen, H. Ropers, C. Spaich, 2007, American Journal of Medical Genetics. Part A.

Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl

C. Spaich, H. Kehrer-Sawatzki, G. Barbi, 2003, Journal of medical genetics.