Albert Schinzel

Overview

Best Publications

• A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

  M Muenke;U Schell;A Hehr;N H Robin

  846
  Citations

• Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

  M Bamshad;R C Lin;D J Law;W C Watkins

  643
  Citations

• A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

  David A. Koolen;Lisenka E.L.M. Vissers;Rolph Pfundt;Nicole De Leeuw

  513
  Citations

• Angelman syndrome : consensus for diagnostic criteria. Angelman syndrome foundation

  C A Williams;H Angelman;J Clayton-Smith;D J Driscoll

  477
  Citations

• The campomelic syndrome: Review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971

  C S Houston;J M Opitz;J W Spranger;R I Macpherson

  397
  Citations

• Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

  Robert Lyle;Robert Lyle;Frédérique Béna;Frédérique Béna;Sarantis Gagos;Sarantis Gagos;Corinne Gehrig;Corinne Gehrig

  344
  Citations

• Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation

  Dieter Kotzot;Dieter Kotzot;Silke Schmitt;Fabiana Bernasconi;Fabiana Bernasconi;Wendy P. Robinson;Wendy P. Robinson

  332
  Citations

• Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region

  Tayfun Özçelik;Stuart Leff;Wendy Robinson;Tim Donlon

  329
  Citations

• Telomeres: a diagnosis at the end of the chromosomes

  L.B.A. de Vries;R. Winter;A. Schinzel;C.M.A. van Ravenswaaij-Arts

  325
  Citations

• Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

  W P Robinson;A Bottani;Y G Xie;J Balakrishman

  319
  Citations

• The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

  A. Schinzel;W. Schmid;M. Fraccaro;L. Tiepolo

  275
  Citations

• APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

  Yutaka Shimomura;Dritan Agalliu;Alin Vonica;Victor Luria

  267
  Citations

• Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.

  Mary Kay McCormick;Albert Schinzel;Michael B. Petersen;Gail Stetten

  239
  Citations

• Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations

  Jobst Meyer;Peter Südbeck;Marika Held;Thomas Wagner

  213
  Citations

• Tetrasomy 12p (Pallister-Killian syndrome).

  A Schinzel

  203
  Citations

• Characterization of the supernumerary chromosome in cat eye syndrome.

  Heather E. McDermid;Alessandra M. V. Duncan;Klaus R. Brasch;Jeannette J. A. Holden

  202
  Citations

• Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

  Deborah Bartholdi;Malgorzata Krajewska-Walasek;Katrin Õunap;Katrin Õunap;Harald Gaspar

  196
  Citations

• Clinical and Molecular Analysis of Five Inv Dup(15) Patients

  Wendy P. Robinson;Franz Binkert;Ramon Giné;Carlos Vazquez

  180
  Citations

• Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients

  C C Glenn;R D Nicholls;W P Robinson;S Saitoh;S Saitoh

  177
  Citations

• Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

  E.A. Bruford;R. Riise;P.W. Teague;K. Porter

  173
  Citations