S. Spranger

发表

Myotonic dystrophy. The role of large triplet repeat length in the development of mental retardation.

M. Cremer, H. Meinck, M. Spranger, 1997, Archives of neurology.

Bilateral radial deficiency with lower limb involvement.

J. Opitz, J. Tröger, S. Spranger, 1996, American journal of medical genetics.

heterogeneity in Cohen syndrome and clinical COH1 Mutational spectrum of

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

Genotype and phenotype spectrum of NRAS germline variants

H. Cavé, M. Ahmadian, M. Tartaglia, 2017, European Journal of Human Genetics.

Case report

F. Albert, J. Tröger, J. Zöller, 1996, European Journal of Pediatrics.

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

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

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Nikita R. Dsouza, Magalie S Leduc, J. Graham, 2022, Genome Medicine.

A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: a case report and review of the literature.

M. Ptok, I. Rost, M. Jungheim, 2014, International journal of pediatric otorhinolaryngology.

Interstitial Deletion on Chromosome 5q33.3q35.1 in a 6-Year-Old Girl – Neuropsychological Findings and Follow-up in an Extremely Rare Chromosomal Aberration

F. Petermann, A. C. Lepach, S. Spranger, 2003, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

47 patients with FLNA associated periventricular nodular heterotopia

J. Winkler, A. Ferbert, G. Schuierer, 2015, Orphanet Journal of Rare Diseases.

SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6

E. Schwinger, C. Zühlke, M. Spranger, 2003, European Journal of Human Genetics.

Two sisters with Escobar syndrome.

H. Meinck, M. Spranger, S. Spranger, 1995, American journal of medical genetics.

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

H. Mefford, A. Paetau, P. Striano, 2022, Brain : a journal of neurology.

Origin of uniparental disomy 6: presentation of a new case and review on the literature.

K. Zerres, T. Eggermann, S. Mergenthaler, 2001, Annales de genetique.

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.

Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome

S. Mundlos, W. Heinritz, U. Froster, 2005, Heart.

Muscular involvement in the Holt-Oram syndrome.

H. Meinck, J. Tröger, H. Ulmer, 1997, Journal of medical genetics.

Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 1997, Journal of medical genetics.

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

D. Horn, R. Siebert, G. Kristiansen, 2021, Journal of Medical Genetics.

Human Couples An Association Between the Kinship and Fertility

R. Hennekam, Y. Crow, A. Ekici, 2008 .

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

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

Ehlers-Danlos syndrome type VII: clinical features and molecular defects.

W. Cole, A. Superti-Furga, C. Giunta, 1999, The Journal of bone and joint surgery. American volume.

The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

B. Weschke, M. Seifert, A. Kaindl, 2020, Journal of Human Genetics.

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

H. Knoblauch, G. Rappold, B. Schechinger, 2000, European Journal of Human Genetics.

Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height

S. Kirsch, S. Spranger, K. Schiebel, 1997, Clinical genetics.

Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.

A. Jauch, G. Rappold, J. Tröger, 1999, American journal of medical genetics.

The mutation spectrum in Holt-Oram syndrome

G. Mortier, R. Newbury-Ecob, P. Jonveaux, 2000, Journal of medical genetics.

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

V. Liebscher, T. Meitinger, T. Strom, 2007, American journal of human genetics.

RAD21 mutations cause a human cohesinopathy.

I. Krantz, H. Hakonarson, M. McKay, 2012, American journal of human genetics.

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

D. Mitter, C. Evers, S. Nampoothiri, 2016, Genetics in Medicine.

Next-generation sequencing in X-linked intellectual disability

P. Bauer, C. Evers, C. Schroeder, 2015, European Journal of Human Genetics.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

M. Polymeropoulos, T. Meitinger, T. Strom, 2000, Nature Genetics.

Symptomatic heterozygosity in the Ellis‐van Creveld syndrome?

S. Spranger, G. Tariverdian, 1995, Clinical genetics.

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

L. Vissers, N. Brown, B. D. de Vries, 2021, medRxiv.

NSD1 duplication in Silver–Russell syndrome (SRS): molecular karyotyping in patients with SRS features

K. Zerres, T. Eggermann, V. Kučinskas, 2017, Clinical 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.

Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits

A. Monaco, D. Horn, T. Strom, 2010, 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.

De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation

H. Reutter, M. Ludwig, B. Kazmierczak, 2011, Cytogenetic and Genome Research.

Three familial cases presenting with an immobile spine. Rigid spine or Emery‐Dreifuss syndrome?

H. Meinck, J. Loessner, M. Spranger, 1996, Clinical Genetics.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

L. Vissers, N. Brown, B. D. de Vries, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

Stephanie Spranger, Malik Alawi, Kerstin Kutsche, 2017, Pediatrics.

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2015, Front. Genet..

Barraquer-Simons syndrome (with sensorineural deafness): a contribution to the differential diagnosis of lipodystrophy syndromes.

W. Reith, T. Voigtländer, A. Tasman, 1997, American journal of medical genetics.

Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: A newly recognized syndrome?

A. Rajab, S. Spranger, J. Spranger, 2003, American journal of medical genetics. Part A.

Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation.

A. Jauch, J. Bullerdiek, S. Spranger, 2000, American journal of medical genetics.

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

K. Devriendt, R. Hennekam, H. Brunner, 2008, Science.

High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome

R. Siebert, M. Stolte, L. Sunde, 2007, Journal of Medical Genetics.

Novel Variants of SOX4 in Patients with Intellectual Disability

C. Depienne, T. Haack, F. Kaiser, 2023, International journal of molecular sciences.

Clinical , biochemical , and genetic spectrum of seven patients with NFU 1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2017 .

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.

T. Rausch, D. Seelow, J. Korbel, 2013, Matrix biology : journal of the International Society for Matrix Biology.

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders

J. Winkler, S. Couillard-Després, L. Aigner, 2003, Neurology.

Ehlers-Danlos syndrome type VIII and leukodystrophy.

K. Kirchhof, B. Steinmann, M. Spranger, 1996, American journal of medical genetics.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

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

Köbberling‐Dunnigan syndrome: A rare cause of generalized muscular hypertrophy

H. Meinck, F. Raue, S. Spranger, 1996, Muscle & nerve.

Familial Hemiplegic Migraine with Cerebellar Ataxia and Paroxysmal Psychosis

M. Dichgans, C. Benninger, M. Spranger, 1999, European Neurology.

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

F. Alkuraya, J. Mayerle, M. Lerch, 2014, Human mutation.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

Phenotypic spectrum of Microcephalic osteodysplastic primordial dwarfism type Majewski II caused by mutations in the Pericentrin (PCNT) Gene

K. Devriendt, R. Hennekam, H. Brunner, 2008 .

Hemiplegic cerebral palsy and the factor V Leiden mutation

G. Mortier, S. Uhrig, R. Newbury-Ecob, 2000, Journal of medical genetics.

Muscular involvement intheHolt-Oram syndrome

H. Meinck, J. Tröger, H. Ulmer, 1997 .