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Albert Schinzel

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Anne Frühmesser; Edda Haberlandt; Werner Judmaier; Albert Schinzel; Barbara Utermann; Gerd Utermann; Johannes Zschocke; Martin Erdel; Christine Fauth; Dieter Kotzot
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.
György Kosztolányi; L Brecevic; K Bajnòczky; Albert Schinzel; M Riegel
Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.
Dunja Niedrist; Iosif W Lurie; Albert Schinzel
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.

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2012: Anne Frühmesser; Edda Haberlandt; Werner Judmaier; Albert Schinzel; Barbara Utermann; Gerd Utermann; Johannes Zschocke; Martin Erdel; Christine Fauth; Dieter Kotzot
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.
American journal of medical genetics. Part A 2012;158A(9):2239-44.
2011: György Kosztolányi; L Brecevic; K Bajnòczky; Albert Schinzel; M Riegel
Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.
European journal of medical genetics 2011;54(2):152-6.
2009: Dunja Niedrist; Iosif W Lurie; Albert Schinzel
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.
European journal of human genetics : EJHG 2009;17(8):1086-91.
2009: Deborah Bartholdi; M Krajewska-Walasek; K Ounap; H Gaspar; K H Chrzanowska; H Ilyana; Hulya Kayserili; Iosif W Lurie; Albert Schinzel; Alessandra Baumer
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.
Journal of medical genetics 2009;46(3):192-7.
2009: P Eberle; C Berger; S Junge; S Dougoud; E Valsangiacomo Büchel; M Riegel; Albert Schinzel; Reinhard Seger; Tayfun Güngör
Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome.
Clinical and experimental immunology 2009;155(2):189-98.
2008: Andrea Badertscher; Urs Bauersfeld; Urs Arbenz; Matthias R Baumgartner; Albert Schinzel; Christian Balmer
Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis.
Acta paediatrica (Oslo, Norway : 1992) 2008;97(11):1523-8.
2008: Nicolas H Zech; Josef Wisser; Giancarlo Natalucci; Mariluce Riegel; Alessandra Baumer; Albert Schinzel
Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote.
Prenatal diagnosis 2008;28(8):759-63.
2008: Nataliya Tyshchenko; Iosif W Lurie; Albert Schinzel
Chromosomal map of human brain malformations.
Human genetics 2008;124(1):73-80.
2008: Harald Gaspar; Kurt Albermann; Alessandra Baumer; Albert Schinzel
Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance.
American journal of medical genetics. Part A 2008;146A(11):1453-7.
2008: Martina Witsch-Baumgartner; Ilona Schwentner; M Gruber; P Benlian; Jaume Bertranpetit; E Bieth; F Chevy; N Clusellas; X Estivill; G Gasparini; M Giros; Richard I Kelley; Malgorzata Krajewska-Walasek; J Menzel; T Miettinen; M Ogorelkova; M Rossi; I Scala; Albert Schinzel; K Schmidt; D Schönitzer; E Seemanova; K Sperling; M Syrrou; P J Talmud; B Wollnik; M Krawczak; D Labuda; Gerd Utermann
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Journal of medical genetics 2008;45(4):200-9.
2008: Deborah Bartholdi; Sandra P Toelle; Bernhard Steiner; Eugen Boltshauser; Albert Schinzel; Mariluce Riegel
Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.
European journal of medical genetics 2008;51(2):113-23.
2008: Andreas Tzschach; Wei Chen; Fikret Erdogan; Adelheid Hoeller; Hans-Hilger Ropers; Claudio Castellan; Reinhard Ullmann; Albert Schinzel
Characterization of interstitial Xp duplications in two families by tiling path array CGH.
American journal of medical genetics. Part A 2008;146A(2):197-203.
2008: A L Schulz; Beate Albrecht; C Arici; Ineke van der Burgt; Annegret Buske; Gabriele Gillessen-Kaesbach; R Heller; Denise Horn; C A Hübner; Georg Christoph Korenke; Rainer König; Wolfram Kress; G Krüger; Peter Meinecke; J Mücke; Barbara Plecko; E Rossier; Albert Schinzel; A Schulze; Eva Seemanova; Heide Seidel; Stephanie Spranger; B Tuysuz; S Uhrig; Dagmar Wieczorek; Kerstin Kutsche; M Zenker
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Clinical genetics 2008;73(1):62-70.
2007: Deborah Bartholdi; Jeroen H Roelfsema; Francesco Papadia; Martijn H Breuning; Dunja Niedrist; Raoul Hennekam; Albert Schinzel; Dorien J M Peters
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.
Journal of medical genetics 2007;44(5):327-33.
2007: Nataliya A Tyshchenko; Mariluce Riegel; Elena G Evseenkova; Tatjana E Zerova; Nataliya G Gorovenko; Albert Schinzel
Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations.
European journal of medical genetics 2007;50(2):128-32.
2007: Mascha K Rochat; Mariluce Riegel; Albert Schinzel
Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review.
American journal of medical genetics. Part A 2007;143(4):399-408.
2007: Alessandra Baumer; Seher Basaran; Malgorzata Taralczak; Kivanc Cefle; S Ozturk; Sukru Palanduz; Albert Schinzel
Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male.
Cytogenetic and genome research 2007;118(1):38-41.
2006: Dunja Niedrist; Mariluce Riegel; Josef Achermann; Valentin Rousson; Albert Schinzel
Trisomy 18: changes in sex ratio during intrauterine life.
American journal of medical genetics. Part A 2006;140(21):2365-7.
2006: Wiktor Borozdin; Ana M Bravo Ferrer Acosta; Michael Bamshad; Elke M Botzenhart; Ursula G Froster; Johannes Lemke; Albert Schinzel; Stephanie Spranger; Julie McGaughran; Dorothea Wand; Krystyna H Chrzanowska; Juergen Kohlhase
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.
Human mutation 2006;27(9):975-6.
2006: Barbara Utermann; Mariluce Riegel; Dru Leistritz; Thomas Karall; Josef Wisser; Lorraine Meisner; Christine Fauth; Rosa Baldinger; Julie Johnson; Martin Erdel; Malgorzata Taralczak; Richard M Pauli; Alessandra Baumer; Albert Schinzel; Dieter Kotzot
Pre- and postnatal findings in trisomy 17 mosaicism.
American journal of medical genetics. Part A 2006;140(15):1628-36.
2006: Dunja Niedrist; Mariluce Riegel; J Achermann; Albert Schinzel
Survival with trisomy 18--data from Switzerland.
American journal of medical genetics. Part A 2006;140(9):952-9.
2006: Deborah Bartholdi; A Klein; Markus Weissert; N Koenig; Alessandra Baumer; Eugen Boltshauser; Albert Schinzel; Wolfgang Berger; G Mátyás
Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.
Clinical genetics 2006;69(4):319-26.
2006: Mariluce Riegel; Josef Wisser; Alessandra Baumer; Albert Schinzel
Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations.
Prenatal diagnosis 2006;26(3):221-5.
2006: Regie Lyn P Santos; Franziska M Häfner; Patrick Huygen; Thomas E Linder; Albert Schinzel; Thomas Spillmann; Suzanne M Leal
Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.
Audiology & neuro-otology 2006;11(5):269-75.
2005: Mariluce Riegel; Alessandra Baumer; Jochen Süss; Albert Schinzel
An unusual reciprocal translocation detected by subtelomeric FISH: interstitial and not terminal.
American journal of medical genetics. Part A 2005;135(1):86-90.
2005: Eva Wey; Deborah Bartholdi; Mariluce Riegel; Hülya Nazlican; Bernhard Horsthemke; Albert Schinzel; Alessandra Baumer
Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.
European journal of human genetics : EJHG 2005;13(3):273-7.
2005: Joyce So; Vanessa Suckow; Zofia Kijas; Vera Kalscheuer; Bettina Moser; Jennifer Winter; Marieke Baars; Helen V Firth; Peter Lunt; Ben Hamel; Peter Meinecke; Claude Moraine; Sylvie Odent; Albert Schinzel; Jasper van der Smagt; koenraad devriendt; Beate Albrecht; Gabriele Gillessen-Kaesbach; Ineke van der Burgt; Fred Petrij; Laurence Faivre; Julie McGaughran; Fiona McKenzie; John M Opitz; Timothy Cox; Susann Schweiger
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
American journal of medical genetics. Part A 2005;132A(1):1-7.
2004: Alessandra Baumer; Mariluce Riegel; Albert Schinzel
Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.
Journal of medical genetics 2004;41(6):413-20.
2004: Andreas Zankl; Daniela Brooks; Eugen Boltshauser; Remo H Largo; Albert Schinzel
Natural history of twin disruption sequence.
American journal of medical genetics. Part A 2004;127A(2):133-8.
2004: Andreas Zankl; H Scheffer; Albert Schinzel
Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity?
American journal of medical genetics. Part A 2004;127A(1):74-80.
2004: Nadia Khan; Albert Schinzel; Bernhard Shuknecht; Fabian Baumann; John R Østergaard; Yasuhiro Yonekawa
Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome?
European neurology 2004;51(2):72-7.
2003: Andreas Zankl; Antonio Rampa; Albert Schinzel
Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation?
American journal of medical genetics. Part A 2003;118A(4):358-61.
2003: Andreas Zankl; Tayfun Güngör; Albert Schinzel
Cranio-cerebello-cardiac (3C) syndrome: follow-up study of the original patient.
American journal of medical genetics. Part A 2003;118A(1):55-9.
2003: Alessandra Baumer; D Dres; Seher Basaran; H Isçi; T Dehgan; Albert Schinzel
Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy.
Cytogenetic and genome research 2003;101(1):5-7.
2002: Alessandra Baumer; Maria Luisa Giovannucci Uzielli; Silvia Guarducci; Elisabetta Lapi; Benno Röthlisberger; Albert Schinzel
Meiotic origin of two ring chromosomes 18 in a girl with developmental delay.
American journal of medical genetics 2002;113(1):101-4.
2002: Michael Mutter; Franz Binkert; Albert Schinzel
Down syndrome livebirth rate in the eastern part of Switzerland between 1980 and 1996 stays constant in spite of growing numbers of prenatally diagnosed and subsequently terminated cases.
Prenatal diagnosis 2002;22(9):835-6.
2002: Andreas Zankl; Lukas Eberle; Luciano Molinari; Albert Schinzel
Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years.
American journal of medical genetics 2002;111(4):388-91.
2002: Franz Binkert; Michael Mutter; Albert Schinzel
Impact of prenatal diagnosis on the prevalence of live births with Down syndrome in the eastern half of Switzerland 1980-1996.
Swiss medical weekly 2002;132(33-34):478-84.
2002: Mariluce Riegel; Albert Schinzel
Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?
American journal of medical genetics 2002;111(1):76-80.
2002: Monika Schlegel; Alessandra Baumer; Mariluce Riegel; Ute Wiedemann; Albert Schinzel
Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus.
Prenatal diagnosis 2002;22(5):418-21.
2001: Benno Röthlisberger; Tatjana E Zerova; Dieter Kotzot; T I Buzhievskaya; D Balmer; Albert Schinzel
Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child.
Journal of medical genetics 2001;38(12):885-8.
2001: Dieter Kotzot; Benno Röthlisberger; Mariluce Riegel; Albert Schinzel
Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qter.
Journal of medical genetics 2001;38(12):876-81.
2001: Mariluce Riegel; Alessandra Baumer; Mauricette Jamar; Katty Delbecque; Christian Herens; Alain Verloes; Albert Schinzel
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.
Human genetics 2001;109(3):286-94.
2001: Mariluce Riegel; Eva Morava; Márta Czakó; György Kosztolányi; Albert Schinzel
Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies.
American journal of medical genetics 2001;102(3):227-30.
2001: Alessandra Baumer; Ute Wiedemann; Martin Hergersberg; Albert Schinzel
A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.
Human mutation 2001;17(5):423-30.
2001: M J Martinez; Franz Binkert; Albert Schinzel; Dieter Kotzot
No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome.
American journal of medical genetics 2001;99(4):335-7.
2001: S Weymann; Y Yonekawa; N Khan; E Martin; F L Heppner; Albert Schinzel; Dieter Kotzot
Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome?
American journal of medical genetics 2001;99(3):190-5.
2001: Albert Schinzel; Dunja Niedrist
Chromosome imbalances associated with epilepsy.
American journal of medical genetics 2001;106(2):119-24.
2001: Siv Fokstuen; K Vrticka; Mariluce Riegel; V Da Silva; Alessandra Baumer; Albert Schinzel
Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2.
European journal of pediatrics 2001;160(1):54-7.
2000: C Ginsburg; Siv Fokstuen; Albert Schinzel
The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.
American journal of medical genetics 2000;95(5):454-60.
2000: Lukrecija Brecevic; Seher Basaran; Fabrizio Dutly; Benno Röthlisberger; Albert Schinzel
Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl.
Journal of medical genetics 2000;37(12):964-7.
2000: Alessandra Baumer; D Balmer; Franz Binkert; Albert Schinzel
Parental origin and mechanisms of formation of triploidy: a study of 25 cases.
European journal of human genetics : EJHG 2000;8(12):911-7.
2000: S Achermann; Marie-Claude Addor; Albert Schinzel
[Data on selected prenatal malformations in the EUROCAT study. Results of Zurich Canton from 1988 to 1997].
Schweizerische medizinische Wochenschrift 2000;130(38):1326-31.
2000: Dieter Kotzot; Iosif W Lurie; K Méhes; E Werder; Albert Schinzel
No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation.
Clinical genetics 2000;58(3):177-80.
2000: Dieter Kotzot; Albert Schinzel
Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46, XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome.
European journal of human genetics : EJHG 2000;8(9):709-12.
2000: Maike Weigell-Weber; Albert Schinzel; Martin Hergersberg
[Hereditary hearing loss due to mutations in the connexin-26 gene].
Schweizerische medizinische Wochenschrift 2000;130(29-30):1072-7.
2000: Alessandra Baumer; S Belli; R M Trüeb; Albert Schinzel
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.
European journal of human genetics : EJHG 2000;8(6):443-8.
2000: AA Salam; Franziska M Häfner; Thomas E Linder; Thomas Spillmann; Albert Schinzel; Suzanne M Leal
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.
American journal of human genetics 2000;66(6):1984-8.
2000: Wendy P Robinson; SL Christian; Brian Kuchinka; Maria S Peñaherrera; S Das; S Schuffenhauer; Sue Malcolm; Albert Schinzel; T J Hassold; David Ledbetter
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.
Clinical genetics 2000;57(5):349-58.
2000: S Malich; Remo H Largo; Albert Schinzel; Luciano Molinari; Urs Eiholzer
Phenotypic heterogeneity of growth and psychometric intelligence in Prader-Willi syndrome: variable expression of a contiguous gene syndrome or parent-child resemblance?
American journal of medical genetics 2000;91(4):298-304.
2000: Hans H Stassen; René Bridler; S Hägele; Martin Hergersberg; B Mehmann; Albert Schinzel; M Weisbrod; Christian Scharfetter
Schizophrenia and smoking: evidence for a common neurobiological basis?
American journal of medical genetics 2000;96(2):173-7.
2000: Dieter Kotzot; D Balmer; Alessandra Baumer; Krystyna H Chrzanowska; B C Hamel; H Ilyina; Malgorzata Krajewska-Walasek; Iosif W Lurie; B J Otten; Eugen J Schoenle; Gholamali Tariverdian; Albert Schinzel
Maternal uniparental disomy 7--review and further delineation of the phenotype.
European journal of pediatrics 2000;159(4):247-56.
2000: Dieter Kotzot; M J Martinez; Gülseren Bagci; Seher Basaran; Alessandra Baumer; Franz Binkert; Lukrecija Brecevic; C Castellan; Krystyna H Chrzanowska; Fabrizio Dutly; Anna Gutkowska; S B Karaüzüm; Malgorzata Krajewska-Walasek; Guven Luleci; P Miny; Mariluce Riegel; S Schuffenhauer; Heide Seidel; Albert Schinzel
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.
Journal of medical genetics 2000;37(4):281-6.
2000: Franziska M Häfner; AA Salam; Thomas E Linder; D Balmer; Alessandra Baumer; Albert Schinzel; Thomas Spillmann; Suzanne M Leal
A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred.
American journal of human genetics 2000;66(4):1437-42.
2000: Maike Weigell-Weber; S Fokstuen; B Török; Günter Niemeyer; Albert Schinzel; Martin Hergersberg
Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy?
Archives of ophthalmology 2000;118(2):300.
2000: Benno Röthlisberger; Krystyna H Chrzanowska; D Balmer; Mariluce Riegel; Albert Schinzel
A supernumerary marker chromosome originating from two different regions of chromosome 18.
Journal of medical genetics 2000;37(2):121-4.
2000: Albert Schinzel
Discrepancies in cytogenetic results between different tissues in two fetuses with Wolf- Hirschhorn syndrome.
Cytogenetics and cell genetics 2000;91(1-4):231-3.
2000: Benno Röthlisberger; Albert Schinzel; Dieter Kotzot
A new molecular approach to investigate origin and formation of structural chromosome aberrations.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2000;8(5):451-3.
2000: Mariluce Riegel; Alessandra Baumer; Josef Wisser; J Acherman; Albert Schinzel
Prenatal diagnosis of mosaicism for a del(22)(q13).
Prenatal diagnosis 2000;20(1):76-9.
1999: Alessandra Baumer; D Balmer; Albert Schinzel
Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria.
Human genetics 1999;105(6):598-602.
1999: Benno Röthlisberger; Dieter Kotzot; Lukrecija Brecevic; M Koehler; D Balmer; Franz Binkert; Albert Schinzel
Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes.
European journal of human genetics : EJHG 1999;7(8):873-83.
1999: D Balmer; Alessandra Baumer; Benno Röthlisberger; Albert Schinzel
Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta.
Prenatal diagnosis 1999;19(11):1061-4.
1999: S Achermann; Remo H Largo; Dieter Kotzot; Mariluce Riegel; Albert Schinzel
Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: a new syndrome?
American journal of medical genetics 1999;86(5):486-91.
1999: M S Wang; Albert Schinzel; Dieter Kotzot; D Balmer; R Casey; B N Chodirker; Jolanda Gyftodimou; Michael B Petersen; Elena Lopez-Rangel; Wendy P Robinson
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.
American journal of medical genetics 1999;86(1):34-43.
1999: Benno Röthlisberger; Dieter Kotzot; H E Gnehm; Albert Schinzel
"Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3).
American journal of medical genetics 1999;85(4):389-94.
1999: Siv Fokstuen; C Ginsburg; M Zachmann; Albert Schinzel
Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty.
The Journal of pediatrics 1999;134(6):689-95.
1999: Juergen Kohlhase; P E Taschner; Peter Burfeind; Bastian Pasche; B Newman; C Blanck; M H Breuning; L P ten Kate; P Maaswinkel-Mooy; Beate Mitulla; Jörg Seidel; SJ Kirkpatrick; RM Pauli; DS Wargowski; koenraad devriendt; W Proesmans; Orazio Gabrielli; G V Coppa; E Wesby-van Swaay; R C Trembath; Albert Schinzel; W Reardon; Eva Seemanova; Wolfgang Engel
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
American journal of human genetics 1999;64(2):435-45.
1999: Mariluce Riegel; C Castellan; D Balmer; Lukrecija Brecevic; Albert Schinzel
Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.
American journal of medical genetics 1999;82(3):249-53.
1999: Serguei V Kozlov; Mariluce Riegel; Jochen Kinter; G Hintsch; Paolo Cinelli; Albert Schinzel; Peter Sonderegger
Assignment of the gene encoding the neuronal multidomain serine protease neurotrypsin (PRSS12) to human chromosome band 4q25-->q26 by in situ hybridization.
Cytogenetics and cell genetics 1999;84(1-2):107-8.
1999: Algirdas Utkus; I Sorokina; Vaidutis Kucinskas; Benno Röthlisberger; D Balmer; Lukrecija Brecevic; Albert Schinzel
Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1).
Journal of medical genetics 1999;36(1):73-6.
1998: Fabrizio Dutly; Alessandra Baumer; Hulya Kayserili; Memnune Yüksel-Apak; Tatjana E Zerova; Gundula Hebisch; Albert Schinzel
Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.
American journal of medical genetics 1998;79(5):347-53.
1998: Wendy P Robinson; Brian Kuchinka; F Bernasconi; Michael B Petersen; A Schulze; karen brondum-nielsen; SL Christian; David Ledbetter; Albert Schinzel; B Horsthemke; S Schuffenhauer; R C Michaelis; Sylvie Langlois; T J Hassold
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.
Human molecular genetics 1998;7(6):1011-9.
1998: Albert Schinzel; R Gundelfinger; Fabrizio Dutly; Alessandra Baumer; Franz Binkert
A 5-year-old girl with interstitial deletion of 3p14: clinical, psychologic, cytogenetic, and molecular studies.
American journal of medical genetics 1998;77(4):302-5.
1998: Alessandra Baumer; Fabrizio Dutly; D Balmer; Mariluce Riegel; T Tükel; Malgorzata Krajewska-Walasek; Albert Schinzel
High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.
Human molecular genetics 1998;7(5):887-94.
1998: Fabrizio Dutly; D Balmer; Alessandra Baumer; Franz Binkert; Albert Schinzel
Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation.
European journal of human genetics : EJHG 1998;6(2):140-4.
1998: Wendy P Robinson; Fabrizio Dutly; RD Nicholls; F Bernasconi; Maria S Peñaherrera; R C Michaelis; D Abeliovich; Albert Schinzel
The mechanisms involved in formation of deletions and duplications of 15q11-q13.
Journal of medical genetics 1998;35(2):130-6.
1998: Siv Fokstuen; U Arbenz; S Artan; Fabrizio Dutly; Urs Bauersfeld; Lukrecija Brecevic; Margrit Fasnacht; Benno Röthlisberger; Albert Schinzel
22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin.
Clinical genetics 1998;53(1):63-9.
1997: Albert Schinzel; Lukrecija Brecevic; Fabrizio Dutly; Alessandra Baumer; Franz Binkert; R H Largo
Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.
Journal of medical genetics 1997;34(12):1012-4.
1997: Albert Schinzel; Dieter Kotzot; Lukrecija Brecevic; Wendy P Robinson; Fabrizio Dutly; H Dauwerse; Franz Binkert; Alessandra Baumer; B Ausserer
Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy.
European journal of human genetics : EJHG 1997;5(5):308-14.
1997: Albert Schinzel; CP Braegger; Lukrecija Brecevic; Fabrizio Dutly; Franz Binkert
Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.
Journal of medical genetics 1997;34(8):692-5.
1997: Siv Fokstuen; Armand Bottani; P F Medeiros; Stylianos E Antonarakis; C Stoll; Albert Schinzel
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients.
American journal of medical genetics 1997;70(2):130-3.
1997: Sabine P Schrimpf; A J Bleiker; Lukrecija Brecevic; Serguei V Kozlov; P Berger; T Osterwalder; Stefan Krueger; Albert Schinzel; Peter Sonderegger
Human neuroserpin (PI12): cDNA cloning and chromosomal localization to 3q26.
Genomics 1997;40(1):55-62.
1997: J Meyer; P Südbeck; M Held; T Wagner; M L Schmitz; F D Bricarelli; E Eggermont; U Friedrich; O A Haas; A Kobelt; Jules G Leroy; Lionel Van Maldergem; E Michel; B Mitulla; RA Pfeiffer; Albert Schinzel; H Schmidt; Gerd Scherer
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
Human molecular genetics 1997;6(1):91-8.
1996: Fabrizio Dutly; Albert Schinzel
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.
Human molecular genetics 1996;5(12):1893-8.
1996: S Das-Kundu; H H Klünemann; D Mieth; M Spycher; Thomas Stallmach; Albert Schinzel
Case of the month: a newborn with tight skin and joint contractures.
European journal of pediatrics 1996;155(11):987-9.
1996: F Bernasconi; A Karagüzel; F Celep; I Keser; Güven Lüleci; Fabrizio Dutly; Albert Schinzel
Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)
American journal of human genetics 1996;59(5):1114-8.
1996: J Mitchell; Albert Schinzel; Sylvie Langlois; Gabriele Gillessen-Kaesbach; S Schuffenhauer; R Michaelis; Dvorah Abeliovich; Israela Lerer; Susan L Christian; M Guitart; Deborah E McFadden; Wendy P Robinson
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.
American journal of medical genetics 1996;65(2):133-6.
1996: Wendy P Robinson; Sylvie Langlois; S Schuffenhauer; Bernhard Horsthemke; R C Michaelis; Susan L Christian; David Ledbetter; Albert Schinzel
Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.
Prenatal diagnosis 1996;16(9):837-44.
1996: Wendy P Robinson; J Waslynka; F Bernasconi; M Wang; S Clark; Dieter Kotzot; Albert Schinzel
Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion.
Genomics 1996;34(1):17-23.
1996: Wendy P Robinson; F Bernasconi; Fabrizio Dutly; G Lefort; D R Romain; Franz Binkert; Albert Schinzel
Molecular studies of translocations and trisomy involving chromosome 13.
American journal of medical genetics 1996;61(2):158-63.
1996: Albert Schinzel
Uniparental disomy and genomic imprinting in humans.
Acta geneticae medicae et gemellologiae 1996;45(1-2):145-52.
1996: Dieter Kotzot; G Bundscherer; F Bernasconi; Lukrecija Brecevic; Iosif W Lurie; Seher Basaran; C Baccicchetti; A Höller; C Castellan; C Braun-Quentin; RA Pfeiffer; Albert Schinzel
Isochromosome 18p results from maternal meiosis II nondisjunction.
European journal of human genetics : EJHG 1996;4(3):168-74.
1995: Albert Schinzel; I Lorda-Sanchez; Franz Binkert; Nigel P Carter; C E Bebb; M A Ferguson-Smith; Urs Eiholzer; M Zachmann; Wendy P Robinson
Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.
Journal of medical genetics 1995;32(12):957-61.
1995: Dieter Kotzot; Albert Schinzel
Marden-Walker syndrome in an adult.
Clinical dysmorphology 1995;4(3):260-5.
1995: Dieter Kotzot; F Bernasconi; Lukrecija Brecevic; Wendy P Robinson; P Kiss; G Kosztolanyi; Iosif W Lurie; andrea superti-furga; Albert Schinzel
Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.
European journal of pediatrics 1995;154(6):477-82.
1995: Wendy P Robinson; Franz Binkert; F Bernasconi; I Lorda-Sanchez; E A Werder; Albert Schinzel
Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.
American journal of human genetics 1995;56(2):444-51.
1995: Iosif W Lurie; H G Ilyina; D B Gurevich; N V Rumyantseva; I V Naumchik; C Castellan; A Hoeller; Albert Schinzel
Trisomy 2p: analysis of unusual phenotypic findings.
American journal of medical genetics 1995;55(2):229-36.
1995: Iosif W Lurie; D B Gurevich; F Binkert; Albert Schinzel
Trisomy 17p11-pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus.
Clinical dysmorphology 1995;4(1):25-32.
1994: Albert Schinzel; Lukrecija Brecevic; F Bernasconi; Franz Binkert; F Berthet; A Wuilloud; Wendy P Robinson
Intrachromosomal triplication of 15q11-q13.
Journal of medical genetics 1994;31(10):798-803.
1994: Armand Bottani; Wendy P Robinson; Celia Delozier-Blanchet; E Engel; Michael Morris; Bernhard Schmitt; L Thun-Hohenstein; Albert Schinzel
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?
American journal of medical genetics 1994;51(1):35-40.
1994: Wendy P Robinson; Franz Binkert; Albert Schinzel; Seher Basaran; R Mikelsaar
Multiple origins of X chromosome tetrasomy.
Journal of medical genetics 1994;31(5):424-5.
1994: Constantinos Pangalos; Dimitrios Avramopoulos; Jean-Louis Blouin; O Raoul; M C deBlois; Marguerite Prieur; Albert Schinzel; M Gika; Danae Abazis; Stylianos Antonarakis
Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis.
American journal of human genetics 1994;54(3):473-81.
1994: Albert Schinzel; Seher Basaran; F Bernasconi; B Karaman; Memnune Yüksel-Apak; Wendy P Robinson
Maternal uniparental disomy 22 has no impact on the phenotype.
American journal of human genetics 1994;54(1):21-4.
1994: Albert Schinzel; Wendy P Robinson; Franz Binkert; A Fanconi
An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features.
Clinical dysmorphology 1994;3(1):63-9.
1993: Wendy P Robinson; J Wagstaff; F Bernasconi; C Baccichetti; L Artifoni; E Franzoni; L Suslak; L Y Shih; Hana Aviv; Albert Schinzel
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
Journal of medical genetics 1993;30(9):756-60.
1993: Albert Schinzel; Wendy P Robinson; Franz Binkert; Toni Torresani; E A Werder
Exclusively paternal X chromosomes in a girl with short stature.
Human genetics 1993;92(2):175-8.
1993: Wendy P Robinson; F Bernasconi; A Mutirangura; David Ledbetter; Sylvie Langlois; S Malcolm; Michael Morris; Albert Schinzel
Nondisjunction of chromosome 15: origin and recombination.
American journal of human genetics 1993;53(3):740-51.
1993: X Ya-gang; Wendy P Robinson; R Spiegel; Franz Binkert; U Ruefenacht; Albert Schinzel
Parental origin of the supernumerary chromosome in trisomy 18.
Clinical genetics 1993;44(2):57-61.
1993: M J McGinniss; C Rosenberg; Gail Stetten; Albert Schinzel; Franz Binkert; Michael B Petersen; William G Kearns; Haig Kazazian ; P L Pearson; Stylianos Antonarakis
Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.
American journal of medical genetics 1993;46(6):647-51.
1993: Armand Bottani; Albert Schinzel
A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome.
Clinical dysmorphology 1993;2(3):225-31.
1993: Albert Schinzel
NICHD conference. Genomic imprinting: consequences of uniparental disomy for human disease.
American journal of medical genetics 1993;46(6):683-4.
1993: Wendy P Robinson; R Spiegel; Albert Schinzel
Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination.
Human genetics 1993;91(2):181-4.
1993: S E Antonarakis; Dimitrios Avramopoulos; Jean-Louis Blouin; C Conover Talbot; Albert Schinzel
Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age.
Nature genetics 1993;3(2):146-50.
1993: Wendy P Robinson; I Lorda-Sanchez; S Malcolm; Sylvie Langlois; S Schuffenhauer; H Knoblauch; Bernhard Horsthemke; Albert Schinzel
Increased parental ages and uniparental disomy 15: a paternal age effect?
European journal of human genetics : EJHG 1993;1(4):280-6.
1993: Wendy P Robinson; Franz Binkert; R Giné; C Vazquez; W Müller; W Rosenkranz; Albert Schinzel
Clinical and molecular analysis of five inv dup(15) patients.
European journal of human genetics : EJHG 1993;1(1):37-50.
1993: I Lorda-Sanchez; Albert Schinzel
[Etiology of numerical and structural aberrations of the X chromosome. A study with highly polymorphic DNA markers].
Ergebnisse der inneren Medizin und Kinderheilkunde 1993;61():57-121.
1992: Constantinos Pangalos; C Conover Talbot; J G Lewis; P A Adelsberger; Michael B Petersen; J L Serre; M O Rethoré; M C de Blois; P Parent; Albert Schinzel
DNA polymorphism analysis in families with recurrence of free trisomy 21.
American journal of human genetics 1992;51(5):1015-27.
1992: I Lorda-Sanchez; Franz Binkert; M Maechler; Wendy P Robinson; Albert Schinzel
Reduced recombination and paternal age effect in Klinefelter syndrome.
Human genetics 1992;89(5):524-30.
1992: J M Ritzler; R Sawhney; A H Geurts van Kessel; K H Grzeschik; Albert Schinzel; MW Berchtold
The genes for the highly homologous Ca(2+)-binding proteins oncomodulin and parvalbumin are not linked in the human genome.
Genomics 1992;12(3):567-72.
1992: S E Antonarakis; Michael B Petersen; Melvin G McInnis; P A Adelsberger; Albert Schinzel; Franz Binkert; Constantinos Pangalos; O Raoul; Susan A Slaugenhaupt; M Hafez
The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms.
American journal of human genetics 1992;50(3):544-50.
1992: I Lorda-Sanchez; Franz Binkert; M Maechler; Albert Schinzel
Molecular study of 45,X conceptuses: correlation with clinical findings.
American journal of medical genetics 1992;42(4):487-90.
1992: Albert Schinzel; P A Adelsberger; Franz Binkert; Seher Basaran; S E Antonarakis
No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements.
American journal of human genetics 1992;50(2):288-93.
1992: Albert Schinzel; Wendy P Robinson; Armand Bottani; X Yagang; A Prader
Prader-Willi or Angelman syndrome in familial 15q11----q13 deletion of maternal origin?
Human genetics 1992;88(3):361-2.
1992: I Lorda-Sanchez; Franz Binkert; K G Hinkel; H Moser; W Rosenkranz; M Maechler; Albert Schinzel
Uniparental origin of sex chromosome polysomies.
Human heredity 1992;42(3):193-7.
1991: Wendy P Robinson; Armand Bottani; Y G Xie; J Balakrishman; Franz Binkert; M Mächler; A Prader; Albert Schinzel
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
American journal of human genetics 1991;49(6):1219-34.
1991: I Lorda-Sanchez; Franz Binkert; M Maechler; Albert Schinzel
A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation.
American journal of human genetics 1991;49(5):1034-40.
1991: Armand Bottani; Y G Xie; Franz Binkert; Albert Schinzel
A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.
Human genetics 1991;87(6):748-50.
1991: Michael B Petersen; P A Adelsberger; Albert Schinzel; Franz Binkert; G K Hinkel; S E Antonarakis
Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal.
American journal of human genetics 1991;49(3):529-36.
1991: Armand Bottani; I Hammerer; Albert Schinzel
The cardio-facio-cutaneous syndrome: report of a patient and review of the literature.
European journal of pediatrics 1991;150(7):486-8.
1991: Albert Schinzel; Franz Binkert; D M Lillington; M Sands; R J Stocks; R H Lindenbaum; H Matthews; H Sheridan
Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.
Journal of medical genetics 1991;28(5):352-5.
1991: I Lorda-Sanchez; Michael B Petersen; Franz Binkert; M Maechler; W Schmid; P A Adelsberger; S E Antonarakis; Albert Schinzel
A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21.
Human genetics 1991;87(1):54-6.
1991: Albert Schinzel
Tetrasomy 12p (Pallister-Killian syndrome).
Journal of medical genetics 1991;28(2):122-5.
1991: Christian P Braegger; Armand Bottani; F Hallé; Andres Giedion; Ernst Leumann; R Seger; Ulrich V Willi; Albert Schinzel
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.
Journal of medical genetics 1991;28(1):56-9.
1991: Michael B Petersen; Albert Schinzel; Franz Binkert; L Tranebjaerg; M Mikkelsen; F A Collins; E P Economou; S E Antonarakis
Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.
American journal of human genetics 1991;48(1):65-71.
1990: S E Antonarakis; P A Adelsberger; Michael B Petersen; Franz Binkert; Albert Schinzel
Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations.
American journal of human genetics 1990;47(6):968-72.
1990: Albert Schinzel; E Hof; P Dangel; W Robinson
Familial congenital laryngeal abductor paralysis: different expression in a family with one male and three females affected.
Journal of medical genetics 1990;27(11):715-6.
1990: Albert Schinzel; V D'Apuzzo
Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(p15.2;q11.2).
Ophthalmic paediatrics and genetics 1990;11(2):139-42.
1990: Albert Schinzel; S Bernasconi
Short stature, brachydactyly, small ears, and a pattern of minor anomalies in brother and sister born to consanguineous parents: a hitherto unreported syndrome?
American journal of medical genetics 1990;36(2):243-6.
1990: U Orth; Albert Schinzel; M Mächler; Andreas Gal
[X-chromosomal hereditary night blindness: detection of carriers by segregation analysis with linked DNA markers].
Klinische Monatsblätter für Augenheilkunde 1990;196(5):269-72.
1990: Albert Schinzel
Phocomelia and additional anomalies in two sisters.
Human genetics 1990;84(6):539-41.
1990: Franz Binkert; J Stranzinger; Albert Schinzel
Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11).
Human heredity 1990;40(2):81-4.
1990: Jonathan (Jon) Zonana; Albert Schinzel; Meena Upadhyaya; N S Thomas; I Anton-Lamprecht; Peter S Harper
Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis.
American journal of medical genetics 1990;35(1):132-5.
1989: M K McCormick; Albert Schinzel; Michael B Petersen; Gail Stetten; Daniel J Driscoll; E S Cantu; L Tranebjaerg; M Mikkelsen; P C Watkins; S E Antonarakis
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.
Genomics 1989;5(2):325-31.
1989: J Hammer; M Kläusler; Albert Schinzel
The popliteal pterygium syndrome: distinct phenotypic variation in two families.
Helvetica paediatrica acta 1989;43(5-6):507-14.
1989: R Lauener; R Seger; W Jörg; F Hallé; R Aeppli; Albert Schinzel
Immunodeficiency associated with Dandy-Walker-like malformation, congenital heart defect, and craniofacial abnormalities.
American journal of medical genetics 1989;33(2):280-1.
1989: Andreas Gal; Albert Schinzel; U Orth; N A Fraser; F Mollica; I W Craig; T Kruse; M Mächler; M Neugebauer; L M Bleeker-Wagemakers
Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp.
Human genetics 1989;81(4):315-8.
1989: U A Hunziker; G Savoldelli; Eugen Boltshauser; Andres Giedion; Albert Schinzel
Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation.
Prenatal diagnosis 1989;9(2):127-31.
1988: Albert Schinzel
Microdeletion syndromes, balanced translocations, and gene mapping.
Journal of medical genetics 1988;25(7):454-62.
1988: Albert Schinzel
The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.
Journal of medical genetics 1988;25(5):332-6.
1987: Albert Schinzel
Ulnar-mammary syndrome.
Journal of medical genetics 1987;24(12):778-81.
1987: Albert Schinzel
Herwigh Rieger, 2 May 1898-1 February 1986.
American journal of medical genetics 1987;27(4):749-52.
1987: U Schwyzer; Franz Binkert; U Caflisch; B Baumgartner; Albert Schinzel
Terminal deletion of the short arm of chromosome 3, del(3pter-p25): a recognizable syndrome.
Helvetica paediatrica acta 1987;42(4):309-15.