B. Albrecht

发表

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

D. Horn, T. Wieland, E. Schröck, 2012, The Lancet.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

J. Al-Aama, K. Campbell, E. Dikoglu, 2016, American journal of human genetics.

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

Sandya Liyanarachchi, Pearlly Yan, Dagmar Wieczorek, 2011, Science.

Identification of copy number variants associated with BPES-like phenotypes

E. Bakker, C. Ruivenkamp, R. Hennekam, 2008, Human Genetics.

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

D. Wieczorek, T. Eggermann, B. Horsthemke, 2017, European Journal of Human Genetics.

ANKRD11 variants: KBG syndrome and beyond

E. Zackai, H. Hakonarson, D. Horn, 2021, Clinical genetics.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.

J. Veltman, P. Ruiz-Lozano, R. Hennekam, 2010, American journal of human genetics.

CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).

G. Matthijs, B. Albrecht, E. Schollen, 2005, European journal of medical genetics.

Cohen syndrome diagnosis using whole genome arrays

T. Meitinger, T. Strom, N. Klopp, 2010, Journal of Medical Genetics.

heterogeneity in Cohen syndrome and clinical COH1 Mutational spectrum of

H. Hennies, D. Chitayat, M. Holder-Espinasse, 2006 .

"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.

A. Rauch, C. Zweier, B. Albrecht, 2002, American journal of medical genetics.

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

A. Pagnamenta, A. Battaglia, D. Keays, 2015, Journal of Medical Genetics.

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

J. Allanson, M. Tartaglia, B. Kerr, 2009, European Journal of Human Genetics.

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

D. Horn, S. Uhrig, B. Tüysüz, 2007, Clinical genetics.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five ELN mutations

R. Mecham, E. Blair, A. De Paepe, 2011, Human mutation.

MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking

R. Wevers, S. Wortmann, U. Kornak, 2010, American journal of medical genetics. Part A.

IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia

T. Eggermann, G. Binder, B. Horsthemke, 2008, European Journal of Human Genetics.

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.

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

D. Sillence, A. Munnich, J. Clayton-Smith, 2012, Human mutation.

Childhood overgrowth in patients with common NF1 microdeletions

D. Horn, H. Kehrer-Sawatzki, E. Seemanová, 2005, European Journal of Human Genetics.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

F. Rivier, D. Wieczorek, I. Touitou, 2013, European Journal of Human Genetics.

Extending the KCNQ2 encephalopathy spectrum

I. Scheffer, P. Striano, R. Møller, 2013, Neurology.

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.

N. Elçioglu, D. Eyre, B. Albrecht, 2008, American journal of human genetics.

Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q)

K. Zerres, T. Eggermann, B. Albrecht, 2001, Journal of medical genetics.

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

E. Blennow, S. Kitsiou‐Tzeli, A. Tsezou, 1998, European Journal of Human Genetics.

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

D. Horn, S. Mundlos, S. Tinschert, 2003, European Journal of Human Genetics.

UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors

Y. Shiloh, M. Fischer, D. Wieczorek, 2019, Cell.

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

E. Haan, R. Nagy, A. de la Chapelle, 2012, Clinical genetics.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Human Ring Chromosomes – New Insights for their Clinical Significance

S. Bhatt, A. Dufke, T. Liehr, 2013, Balkan journal of medical genetics : BJMG.

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.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

J. Shendure, B. O’Roak, C. Cytrynbaum, 2012, Nature Genetics.

Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation

B. Albrecht, J. Kohlhase, M. Liebers, 2004, American journal of medical genetics. Part A.

Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

B. V. van Bon, J. Allanson, S. Aradhya, 2012, American journal of medical genetics. Part A.

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome

D. Wieczorek, T. Haaf, B. Albrecht, 2010, American journal of medical genetics. Part A.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Jacek Majewski, 2012, American journal of human genetics.

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

D. Horn, B. Lorenz, D. Wieczorek, 2005, European journal of medical genetics.

Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment

B. Albrecht, G. Gillessen‐kaesbach, B. Hauffa, 2004, European Journal of Pediatrics.

An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance

B. Horsthemke, B. Albrecht, G. Kleinau, 2010, European Journal of Human Genetics.

Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)

D. Wieczorek, O. Riess, B. Albrecht, 2000, Journal of medical genetics.

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

R. Pfundt, B. D. de Vries, E. Eichler, 2016, Human Genetics.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

T. Wieland, T. Strom, J. Veltman, 2014, Human Genetics.

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

R. Hennekam, A. Rosenthal, G. Glöckner, 2000, Nature Genetics.

Prader-Willi-Syndrom und Angelman-Syndrom

B. Albrecht, K. Buiting, Beate Albrecht, 2010 .

Successful methylphenidate treatment of early onset extreme obesity in a child with a melanocortin-4 receptor gene mutation and attention deficit/hyperactivity disorder.

J. Hebebrand, A. Hinney, S. Scherag, 2011, European journal of pharmacology.

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

N. Niikawa, K. Devriendt, R. Hennekam, 2001, American journal of human genetics.

Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin

P. Robinson, D. Mitter, K. Sperling, 2012, Molecular Syndromology.

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

D. Horn, D. Wieczorek, O. Riess, 2000, European Journal of Human Genetics.

Tentative clinical diagnosis of Lujan‐Fryns syndrome—A conglomeration of different genetic entities?

S. Haas, A. Rump, D. Wieczorek, 2016, American journal of medical genetics. Part A.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

T. Wieland, T. Strom, D. Wieczorek, 2015, Human Genetics.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

L. Vissers, T. Wieland, T. Strom, 2014, Human Genetics.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

Genetics of intellectual disability in consanguineous families

T. Wienker, Wei Chen, R. Herwig, 2019, Molecular Psychiatry.

Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification

A. Dufke, K. Mrasek, T. Liehr, 2003, Human Genetics.

Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver–Russell syndrome features

T. Eggermann, G. Binder, B. Albrecht, 2012, Clinical genetics.

Molecular and clinical studies in 8 patients with Temple syndrome

D. Mitter, T. Eggermann, B. Albrecht, 2018, Clinical genetics.

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations

T. Wieland, T. Strom, D. Wieczorek, 2017, American journal of medical genetics. Part A.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Reinhard Ullmann, Juliane Hoyer, Arif B Ekici, 2011, BMC Medical Genetics.

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster

R. Siebert, W. Lieb, B. Horsthemke, 2008, Human mutation.

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.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

T. Wieland, T. Strom, D. Wieczorek, 2015, Human Genetics.

Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes

A. Battaglia, M. Spielmann, F. Garaci, 2019, Clinical genetics.

A mutation screen in patients with Kabuki syndrome

D. Wieczorek, Yun Li, G. Yigit, 2011, Human Genetics.

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

T. Strom, J. Clayton-Smith, A. Ekici, 2018, American journal of human genetics.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

E. van Binsbergen, W. Dobyns, N. Matsumoto, 2017, Brain : a journal of neurology.

Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome.

D. Wieczorek, W. Doerfler, B. Albrecht, 1997, American journal of medical genetics.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

W. Reardon, H. Brunner, A. Mégarbané, 2013, Orphanet Journal of Rare Diseases.

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

S. Nik-Zainal, K. Devriendt, R. Hennekam, 2008, Human mutation.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

J. Opitz, K. Devriendt, H. Firth, 2005, American journal of medical genetics. Part A.

The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

T. Eggermann, B. Albrecht, J. Beygo, 2017, Molecular genetics & genomic medicine.

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)

V. Kalscheuer, P. Propping, B. Albrecht, 2005, American Journal of Medical Genetics. Part A.

Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements

Uwe Claussen, Thomas Liehr, T. Liehr, 2002, European Journal of Human Genetics.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype.

B. Horsthemke, B. Albrecht, G. Gillessen‐kaesbach, 1995, American journal of medical genetics.

Partial hexasomy 15pter→15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report

T. Liehr, B. Albrecht, G. Gillessen‐kaesbach, 2003, Journal of medical genetics.

UBQLN 4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors Graphical

Y. Shiloh, M. Fischer, D. Wieczorek, 2018 .

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies

D. Wieczorek, F. Kortüm, E. Seemanová, 2011, Molecular Syndromology.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Robert W. Taylor, R. Durbin, T. Wieland, 2015, Annals of clinical and translational neurology.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

Deletion in one allele and a rare neutral DNA alteration in the other allele of the RB1 gene in a patient with bilateral retinoblastoma.

B. Horsthemke, B. Albrecht, E. Passarge, 1992, American journal of medical genetics.

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.

D. Wieczorek, H. Kayserili, B. Albrecht, 2014, Clinical dysmorphology.

Monozygotic twins discordant for trisomy 18

B. Albrecht, A. Stein, B. Eiben, 2011, Ultrasound in Obstetrics and Gynecology.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

D. Horn, H. Hennies, D. Chitayat, 2005, Journal of Medical Genetics.

Desbuquois syndrome: three further cases and review of the literature.

K. Zerres, M. Ausems, F. Beemer, 1995, Clinical dysmorphology.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

A Dynamic Knockout Reveals That Conformational Fluctuations Influence the Chemical Step of Enzyme Catalysis

Wei Li, H. Dyson, P. Wright, 2011, Science.

Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3

M. Vorgerd, R. Kley, P. Nürnberg, 2005, Biological chemistry.