M. Arslan‐Kirchner

发表

Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin

R. Siebert, P. Nürnberg, J. Schmidtke, 2003, Human Genetics.

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys‐Dietz syndrome

K. Rommel, M. Karck, J. Schmidtke, 2006, Human mutation.

Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations

P. Robinson, E. Arbustini, U. Francke, 2009, Pediatrics.

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

P. Robinson, C. Detter, T. Meinertz, 2008, American journal of medical genetics. Part A.

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.

M. Bonin, B. Keyser, M. Stuhrmann, 2013, Molecular and cellular probes.

Congenital heart disease Cardiovascular manifestations in men and women carrying a FBN 1 mutation

P. Robinson, E. Arbustini, U. Francke, 2010 .

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

G. Jondeau, A. Paepe, L. Faivre, 2011, European Journal of Human Genetics.

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

E. Arbustini, G. Jondeau, G. Collod-Béroud, 2010, European Journal of Human Genetics.

The importance of genetic testing in the clinical management of patients with Marfan syndrome and related disorders.

J. Schmidtke, Y. von Kodolitsch, M. Arslan‐Kirchner, 2008, Deutsches Arzteblatt international.

Marfan syndrome: clinical consequences resulting from a medicolegal autopsy of a case of sudden death due to aortic rupture

M. Klintschar, J. Schmidtke, U. Bilkenroth, 2008, International Journal of Legal Medicine.

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

E. Arbustini, U. Francke, D. Halliday, 2008, Journal of Medical Genetics.

Clinical utility gene card for : Marfan syndrome type 1 and related phenotypes [ FBN 1 ]

E. Arbustini, G. Jondeau, G. Collod-Béroud, 2018 .

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

S. Blankenberg, C. Detter, J. Schmidtke, 2012, Clinical genetics.

The new Ghent criteria for Marfan syndrome: what do they change?

E. Arbustini, U. Francke, C. Béroud, 2012, Clinical genetics.

Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

E. Arbustini, U. Francke, G. Jondeau, 2011, Pediatric Research.

TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome

B. Keyser, K. Singh, J. Schmidtke, 2012, Journal of Negative Results in BioMedicine.

Prevalence of dural ectasia in 63 gene‐mutation‐positive patients with features of Marfan syndrome type 1 and Loeys‐Dietz syndrome and report of 22 novel FBN1 mutations

K. Rommel, J. Schmidtke, M. Arslan‐Kirchner, 2009, Clinical genetics.

Performance of a new quantitative method for assessing dural ectasia in patients with FBN1 mutations and clinical features of Marfan syndrome

J. Schmidtke, J. Prokein, M. Arslan‐Kirchner, 2009, Neuroradiology.

Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome.

J. Schmidtke, K. Singh, B. Pabst, 2007, Journal of molecular and cellular cardiology.

Sequence variations in the 5′ upstream regions of the FBN1 gene associated with Marfan syndrome

K. Rommel, J. Schmidtke, P. Shukla, 2006, European Journal of Human Genetics.

Mutation screening of the fibrillin‐1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

K. Rommel, M. Karck, J. Schmidtke, 2002, Human mutation.

Broad Clinical Spectrum in Silver-Russell Syndrome and Consequences for Genetic Testing in Growth Retardation

T. Eggermann, N. Schoenherr, G. Binder, 2009, Pediatrics.

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

H. Mandel, R. Wanders, R. Battini, 2002, Journal of Inherited Metabolic Disease.

A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplification.

P. Propping, S. Aretz, D. Gadzicki, 2007, The Journal of molecular diagnostics : JMD.

Consultations in Molecular Diagnostics A Complex Rearrangement in the APC Gene Uncovered by Multiplex Ligation-Dependent Probe Amplification

P. Propping, S. Aretz, D. Gadzicki, 2007 .

Patient with trisomy 6 mosaicism.

B. Bohnhorst, R. Herbst, M. Arslan‐Kirchner, 2001, American journal of medical genetics.

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

P. Robinson, E. Arbustini, G. Jondeau, 2015, European Journal of Human Genetics.

Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: a new diagnostic approach.

R. Schönweiler, M. Ptok, J. Schmidtke, 2003, International journal of oral and maxillofacial surgery.

A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients

J. Schmidtke, M. Arslan‐Kirchner, H. Kallfelz, 1999, European Journal of Pediatrics.

Miikka Vikkula, Laurence M. Boon, Andrea Superti-Furga, 2001, Cell.

A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts

R. Wanders, R. Schutgens, P. Wieacker, 1994, Journal of Inherited Metabolic Disease.

The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature

J. Schmidtke, B. Pabst, K. Miller, 2004, Cytogenetic and Genome Research.

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Jürgen Kunze, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2004, European Journal of Human Genetics.

Dural ectasia in individuals with Marfan‐like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2

T. Meinertz, B. Keyser, J. Berger, 2011, Clinical genetics.

Dural ectasia in Loeys–Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation

S. Blankenberg, K. Kutsche, B. Keyser, 2014, Clinical genetics.

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

M Claustres, C Binquet, E. Arbustini, 2007, American journal of human genetics.

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

T. Pieber, W. Löscher, J. Senderek, 2011, Journal of Neurology.

[Congenital subglottic laryngeal stenosis in 2 brothers with chondrodysplasia syndrome (Keutel-Gabriel syndrome)].

M. Arslan‐Kirchner, H. Kempf, I. Buchsteiner, 1998, Laryngo- rhino- otologie.

Identification of 29 novel and nine recurrent fibrillin‐1 (FBN1) mutations and genotype–phenotype correlations in 76 patients with Marfan syndrome

K. Rommel, M. Karck, J. Schmidtke, 2005, Human mutation.

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

E. Arbustini, U. Francke, C. Béroud, 2009, American journal of medical genetics. Part A.

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

E. Arbustini, U. Francke, C. Béroud, 2009, European Journal of Human Genetics.

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

P. Robinson, C. Detter, T. Meinertz, 2008, American journal of medical genetics. Part A.

Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.

X. Estivill, P. Gasparini, M. Palacín, 1999, Genomics.

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.

B. Bohnhorst, J. Schmidtke, J. Epplen, 2010, European journal of medical genetics.

Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome

M. Karck, J. Schmidtke, A. Haverich, 1999, Human mutation.

Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene.

J. Winkler, A. Das, T. Lücke, 2004, Neuropediatrics.

[Tetrasomy 18p syndrome and hearing loss. An unusual case].

M. Ptok, B. Pabst, M. Arslan‐Kirchner, 2012, HNO (Berlin. Print).

NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?

D. Steinemann, T. Illig, J. Schmidtke, 2016, European journal of medical genetics.

Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria

T. Dörk, J. Schmidtke, M. Stuhrmann, 2000, Pediatric Nephrology.

Cardiovascular manifestations in men and women carrying a FBN1 mutation.

C. Béroud, G. Collod-Béroud, A. De Paepe, 2010, European heart journal.