Anita Rauch researcher
Rauch, Anita 1967-
VIAF ID: 1668145856956022920544 (Personal)
Permalink: http://viaf.org/viaf/1668145856956022920544
Preferred Forms
- 100 0 _ ‡a Anita Rauch ‡c researcher
- 100 1 _ ‡a Rauch, Anita ‡d 1967-
4xx's: Alternate Name Forms (6)
Works
Title | Sources |
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IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome | |
Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene | |
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose | |
[Intellectual disability - a frequent reason for referral to medical genetics]. | |
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. | |
Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA. | |
Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes? | |
LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition | |
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype | |
Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders. | |
Macrocerebellum: significance and pathogenic considerations. | |
A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males. | |
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. | |
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. | |
Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1 | |
Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome? | |
Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. | |
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia | |
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | |
A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. | |
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. | |
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays | |
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions | |
Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome. | |
"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene | |
Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems | |
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant | |
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes | |
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. | |
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation | |
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism | |
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability | |
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics | |
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium | |
NEK1 mutations cause short-rib polydactyly syndrome type majewski | |
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. | |
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics | |
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. | |
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. | |
Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities. | |
A novel 5q35.3 subtelomeric deletion syndrome. | |
Novel autosomal recessive progressive hyperpigmentation syndrome | |
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome | |
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients | |
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis | |
Novel Morphological and Genetic Features of Fumarate Hydratase Deficient Renal Cell Carcinoma in HLRCC Syndrome Patients with a Tailored Therapeutic Approach | |
Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome. | |
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females | |
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome | |
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects | |
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy | |
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder | |
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling | |
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for auto | |
PDE3A mutations cause autosomal dominant hypertension with brachydactyly | |
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care | |
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls | |
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency | |
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12. | |
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? | |
Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort | |
Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat–Wilson syndrome | |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study | |
Rare copy number variants are a common cause of short stature | |
Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain-related functional pathways | |
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. | |
Reply to Hochstenbach et al. 'Molecular karyotyping' | |
Search for somatic 22q11.2 deletions in patients with conotruncal heart defects. | |
A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. | |
Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11). | |
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene) | |
Severe skeletal dysplasia caused by undiagnosed hypothyroidism. | |
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator | |
The shortest of the short: pericentrin mutations and beyond | |
The smallest teeth in the world are caused by mutations in the PCNT gene | |
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome | |
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures | |
Spectrum of arterial obstructions caused by one elastin gene point mutation | |
Spontaneous development and rupture of pulmonary artery aneurysm: a rare complication in an infant with peripheral pulmonary artery stenoses due to mutation of the elastin gene. | |
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. | |
A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH) | |
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency. | |
Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations | |
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. | |
Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development | |
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum | |
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. | |
Variants in CUL4B are associated with cerebral malformations | |
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction |