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C T R M Schrander-Stumpel

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J M A Verhagen; Yvonne J Vos; J W Weber; Jaap Bakker; M M J Blezer; M Estela Rubio-Gozalbo; Jaap J P Schrander; C T R M Schrander-Stumpel; Alexander P A Stegmann; Suzanna G M Frints
Adducted thumbs: a clinical clue to genetic diagnosis.
C V M Steinbusch; D Tserpelis; Kees E P van Roozendaal; C Zweier; Marinus J Blok; K H de Waal; R C M Hennekam; T J Kranenburg-de Koning; A Rauch; Eric E J Smeets; C T R M Schrander-Stumpel
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
M Klaassens; Deborah Krakow; Fransiska Malfait; G Pals; E Reinstein; H C J Roggeveen; J J P Schrander; J Blaauw; A De Paepe; J M Graham; Y Hilhorst-Hofstee; H Staal; L C ten Have; Maurice A M van Steensel; C T R M Schrander-Stumpel
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

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2013: J M A Verhagen; Yvonne J Vos; J W Weber; Jaap Bakker; M M J Blezer; M Estela Rubio-Gozalbo; Jaap J P Schrander; C T R M Schrander-Stumpel; Alexander P A Stegmann; Suzanna G M Frints
Adducted thumbs: a clinical clue to genetic diagnosis.
European journal of medical genetics 2013;56(3):153-8.
2013: C V M Steinbusch; D Tserpelis; Kees E P van Roozendaal; C Zweier; Marinus J Blok; K H de Waal; R C M Hennekam; T J Kranenburg-de Koning; A Rauch; Eric E J Smeets; C T R M Schrander-Stumpel
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
Clinical genetics 2013;83(1):73-7.
2012: M Klaassens; Deborah Krakow; Fransiska Malfait; G Pals; E Reinstein; H C J Roggeveen; J J P Schrander; J Blaauw; A De Paepe; J M Graham; Y Hilhorst-Hofstee; H Staal; L C ten Have; Maurice A M van Steensel; C T R M Schrander-Stumpel
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.
Clinical genetics 2012;82(2):121-30.
2012: Margje Sinnema; Harm Boer; Marian A Maaskant; C T R M Schrander-Stumpel; Leopold M G Curfs
Aging in Prader-Willi syndrome: twelve persons over the age of 50 years.
American journal of medical genetics. Part A 2012;158A(6):1326-36.
2012: Nicky S J Halbach; Marian A Maaskant; C T R M Schrander-Stumpel; Eric E J Smeets; Noortje van den Braak; Kees E P van Roozendaal; Rien M J Blok; Jean-Pierre Frijns; Leopold M G Curfs
Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.
American journal of medical genetics. Part A 2012;158A(2):340-50.
2011: J M A Verhagen; Yvonne J Vos; J W Weber; Christine Willekes; Jaap Bakker; C E M de Die-Smulders; J J M Engelen; A W D Gavilanes; I P C Krapels; Merryn V E Macville; C T R M Schrander-Stumpel; Alexander P A Stegmann; F H M van Lint; Suzanna G M Frints
Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.
European journal of medical genetics 2011;54(6):e542-7.
2011: Margje Sinnema; Henny M J van Schrojenstein Lantman-de Valk; I Caroline van Nieuwpoort; Leopold M G Curfs; Madeleine L Drent; Marian A Maaskant; C T R M Schrander-Stumpel
Physical health problems in adults with Prader-Willi syndrome.
American journal of medical genetics. Part A 2011;155A(9):2112-24.
2011: Margje Sinnema; Kees E P van Roozendaal; Harm Boer; Philippe Collin; Marian A Maaskant; C T R M Schrander-Stumpel; Leopold M G Curfs
Psychiatric illness in a cohort of adults with Prader-Willi syndrome.
Research in developmental disabilities 2011;32(5):1729-35.
2011: Margje Sinnema; Stewart L Einfeld; C T R M Schrander-Stumpel; Marian A Maaskant; Harm Boer; Leopold M G Curfs
Behavioral phenotype in adults with Prader-Willi syndrome.
Research in developmental disabilities 2011;32(2):604-12.
2010: A P H M Maas; M Sinnema; Robert Didden; Marian A Maaskant; M G Smits; C T R M Schrander-Stumpel; Leopold M G Curfs
Sleep disturbances and behavioural problems in adults with Prader-Willi syndrome.
Journal of intellectual disability research : JIDR 2010;54(10):906-17.
2010: Aimée D C Paulussen; C T R M Schrander-Stumpel; Demis C J Tserpelis; Matteus K M Spee; Alexander P A Stegmann; Grazia M Mancini; Alice S Brooks; Margriet Collée; anneke maat-kievit; Marleen E H Simon; Yolande van Bever; Irene Stolte-Dijkstra; Wilhelmina S Kerstjens-Frederikse; Johanna C Herkert; Anthonie J van Essen; Klaske D Lichtenbelt; Arie van Haeringen; Mei L Kwee; Augusta M A Lachmeijer; Gita M B Tan-Sindhunata; Merel C Van Maarle; Yvonne H J M Arens; Eric E J Smeets; C E M de Die-Smulders; J J M Engelen; H J M Smeets; Jos Herbergs
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
European journal of human genetics : EJHG 2010;18(9):999-1005.
2010: Margje Sinnema; Kees E P van Roozendaal; Marian A Maaskant; H J M Smeets; J J M Engelen; Nieke Jonker-Houben; C T R M Schrander-Stumpel; Leopold M G Curfs
Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly.
European journal of human genetics : EJHG 2010;18(9):993-8.
2010: Margje Sinnema; C T R M Schrander-Stumpel; Hans E G Verheij; Mireille Meeuwsen; Marian A Maaskant; Leopold M G Curfs
Dementia in a woman with Prader-Willi syndrome.
European journal of medical genetics 2010;53(3):145-8.
2010: M Klaassens; E W Blom; J J P Schrander; C Ris-Stalpers; A C Nieuwenhuijzen Kruseman; Maurice A M van Steensel; C T R M Schrander-Stumpel
Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation.
The British journal of dermatology 2010;162(3):690-4.
2009: Eric E J Smeets; Mickey Chenault; Leopold M G Curfs; C T R M Schrander-Stumpel; Jean-Pierre Frijns
Rett syndrome and long-term disorder profile.
American journal of medical genetics. Part A 2009;149A(2):199-205.
2009: Nicole M C Maas; Cindy Melotte; Damien Sanlaville; C T R M Schrander-Stumpel; Tom Van de Putte; koenraad devriendt; Boyan Dimitrov; Annick Francis; Jean-Pierre Fryns; David Genevieve; Stanislas LYONNET; Joris R Vermeesch
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
BMJ case reports 2009;2009():.
2008: Nicky S J Halbach; Eric E J Smeets; C T R M Schrander-Stumpel; Henny H J van Schrojenstein Lantman de Valk; Marian A Maaskant; Leopold M G Curfs
Aging in people with specific genetic syndromes: Rett syndrome.
American journal of medical genetics. Part A 2008;146A(15):1925-32.
2008: Mariëlle E M Swinkels; Annet Simons; Dominique Smeets; Lisenka E L M Vissers; Joris Veltman; Rolph Pfundt; Bert B A de Vries; B H W Faas; C T R M Schrander-Stumpel; Emma McCann; Elizabeth Sweeney; Paul May; Jos M Th Draaisma; Nine V A M Knoers; Ad Geurts van Kessel; Conny van Ravenswaaij-Arts
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.
American journal of medical genetics. Part A 2008;146A(11):1430-8.
2008: christian beetz; Rebecca Schüle; Tine Deconinck; Khanh-Nhat Tran-Viet; Hui Zhu; Berry P H Kremer; Suzanna G M Frints; Wendy A G van Zelst-Stams; Paula Byrne; Susanne Otto; Anders O H Nygren; Jonathan Baets; Katrien Smets; Berten Ceulemans; Bernard Dan; Narasimhan Nagan; Jan Kassubek; Sven Klimpe; Thomas Klopstock; Henning Stolze; Hubert J M Smeets; C T R M Schrander-Stumpel; Michael Hutchinson; Bart P van de Warrenburg; Corey Braastad; Thomas Deufel; Margaret Pericak-Vance; Ludger Schöls; Peter de Jonghe; Stephan Zuchner
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Brain : a journal of neurology 2008;131(Pt 4):1078-86.
2008: Maurice A M van Steensel; Michel van Geel; Lizelotte J M T Parren; C T R M Schrander-Stumpel; Dominique Marcus-Soekarman
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.
Experimental dermatology 2008;17(4):362-5.
2007: Maurice A M van Steensel; Michel van Geel; C T R M Schrander-Stumpel; Peter M Steijlen; J C J M Veraart
Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome.
American journal of medical genetics. Part A 2007;143A(20):2448-51.
2007: Nicole M C Maas; Tom Van de Putte; Cindy Melotte; Annick Francis; C T R M Schrander-Stumpel; Damien Sanlaville; David Genevieve; Stanislas LYONNET; Boyan Dimitrov; koenraad devriendt; Jean-Pierre Fryns; Joris R Vermeesch
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Journal of medical genetics 2007;44(9):562-9.
2007: C T R M Schrander-Stumpel; Margje Sinnema; Lieke van den Hout; Marian A Maaskant; Henny M J van Schrojenstein Lantman-de Valk; Annemieke Wagemans; Jaap J P Schrander; Leopold M G Curfs
Healthcare transition in persons with intellectual disabilities: general issues, the Maastricht model, and Prader-Willi syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics 2007;145C(3):241-7.
2006: Eric E J Smeets; Peter O O Julu; Dick van Waardenburg; Ingegerd Witt Engerström; Stig Hansen; Flora Apartopoulos; Leopold M G Curfs; C T R M Schrander-Stumpel
Management of a severe forceful breather with Rett syndrome using carbogen.
Brain & development 2006;28(10):625-32.
2006: Maurice A M van Steensel; M Vreeburg; C Peels; Conny van Ravenswaaij-Arts; Emilia K Bijlsma; C T R M Schrander-Stumpel; Michel van Geel
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
Experimental dermatology 2006;15(9):731-4.
2006: David B Everman; Chad T Morgan; Robert Lyle; Mary E Laughridge; Michael Bamshad; Katie Clarkson; Randall Colby; Fiorella Gurrieri; A Micheil Innes; Jacquelyn Roberson; C T R M Schrander-Stumpel; Hans van Bokhoven; Stylianos E Antonarakis; Charles E Schwartz
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.
American journal of medical genetics. Part A 2006;140(13):1375-83.
2006: Ute Moog; Kees E P van Roozendaal; Eric E J Smeets; Demis Tserpelis; koenraad devriendt; Griet Van Buggenhout; Jean-Pierre Frijns; C T R M Schrander-Stumpel
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
Brain & development 2006;28(5):305-10.
2006: Mirjam Fransen; Ree Meertens; C T R M Schrander-Stumpel
Communication and risk presentation in genetic counseling. Development of a checklist.
Patient education and counseling 2006;61(1):126-33.
2006: Dorien Lugtenberg; Arjan de Brouwer; Tjitske Kleefstra; Astrid R Oudakker; Suzanna G M Frints; C T R M Schrander-Stumpel; Jean-Pierre Fryns; Lars Riff Jensen; Jamel Chelly; Claude Moraine; Gillian Turner; Joris Veltman; Ben C J Hamel; Bert B A de Vries; Hans van Bokhoven; Helger G Yntema
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
Journal of medical genetics 2006;43(4):362-70.
2005: Ute Moog; Y H J M Arens; J C M van Lent-Albrechts; P E A Huijts; Eric E J Smeets; C T R M Schrander-Stumpel; J J M Engelen
Subtelomeric chromosome aberrations: still a lot to learn.
Clinical genetics 2005;68(5):397-407.
2005: Dominique Marcus-Soekarman; Jos P M Offermans; Ans M W van den Ouweland; A L M Mulder; N Muntjewerff; M Vossen; W Kleijer; C T R M Schrander-Stumpel; Dennis Dooijes
Hyperechogenic fetal bowel: counseling difficulties.
European journal of medical genetics 2005;48(4):421-5.
2005: Dominique Marcus-Soekarman; G Hamers; A L M Mulder; Jos P M Offermans; Jos Offermans; J J M Engelen; J C M van Lent-Albrechts; S G F Robben; Sabine M P F de Muinck Keizer-Schrama; K P Wolffenbuttel; Leendert H J Looijenga; J W Oosterhuis; C T R M Schrander-Stumpel; JG Nijhuis
Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype.
Prenatal diagnosis 2005;25(4):279-82.
2005: Henriette ter Heide; C T R M Schrander-Stumpel; Gerard Pals; Tammo Delhaas
Neonatal Marfan syndrome: clinical report and review of the literature.
Clinical dysmorphology 2005;14(2):81-4.
2005: Andreas Zankl; Luitgard Neumann; Jaakko Ignatius; Peter Nikkels; C T R M Schrander-Stumpel; Geert R Mortier; Heymut Omran; Michael Wright; Katja Hilbert; Luisa Bonafé; Jürgen Spranger; Bernhard Zabel; andrea superti-furga
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
American journal of medical genetics. Part A 2005;133A(1):61-7.
2005: C T R M Schrander-Stumpel; Liesbeth Spruyt; Leopold M G Curfs; Tom Defloor; Jaap J P Schrander
Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.
American journal of medical genetics. Part A 2005;132A(3):234-43.
2005: Tom Defloor; John Van Borsel; C T R M Schrander-Stumpel; Leopold M G Curfs
Expressive language in children with Kabuki syndrome.
American journal of medical genetics. Part A 2005;132A(3):256-9.
2005: J J M Engelen; Wim H Loneus; Gerrie Vaes-Peeters; C T R M Schrander-Stumpel
Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients.
American journal of medical genetics. Part A 2005;132A(3):276-7.
2005: Eric E J Smeets; P Terhal; P Casaer; A Peters; A Midro; Els Schollen; Kees E P van Roozendaal; Ute Moog; Gert Matthijs; Jos Herbergs; H J M Smeets; Leopold M G Curfs; C T R M Schrander-Stumpel; Jean-Pierre Fryns
Rett syndrome in females with CTS hot spot deletions: a disorder profile.
American journal of medical genetics. Part A 2005;132A(2):117-20.
2005: H Y C Wanderley; C T R M Schrander-Stumpel; M O J M Visser; E A M Van Maanen-Op Het Roodt; Wim H Loneus; J J M Engelen
Report of a patient with a trisomy of chromosome region 20q11.2-->20q12 and characterization with FISH.
Genetic counseling (Geneva, Switzerland) 2005;16(3):277-82.
2004: Y H J M Arens; J J M Engelen; L C P Govaerts; C M van Ravenswaay; Wim H Loneus; J C M van Lent-Albrechts; M van der Blij-Philipsen; A J H Hamers; C T R M Schrander-Stumpel
Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers.
American journal of medical genetics. Part A 2004;130A(2):128-33.
2004: L Spruijt; J J M Engelen; I P Bruinen-Smeijsters; J C M Albrechts; Jaap J P Schrander; C T R M Schrander-Stumpel
A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises.
American journal of medical genetics. Part A 2004;129A(3):312-5.
2004: C T R M Schrander-Stumpel; Y J Vos
[From gene to disease; X-linked hydrocephalus and LiCAM].
Nederlands tijdschrift voor geneeskunde 2004;148(29):1441-3.
2004: C T R M Schrander-Stumpel; Leopold M G Curfs; Prapto Sastrowijoto; Suzanne B Cassidy; Jaap J P Schrander; Jean-Pierre Fryns
Prader-Willi syndrome: causes of death in an international series of 27 cases.
American journal of medical genetics. Part A 2004;124A(4):333-8.
2004: Dominique Marcus-Soekarman; G Hamers; S Velzeboer; JG Nijhuis; Wim H Loneus; Jos Herbergs; C E M de Die-Smulders; C T R M Schrander-Stumpel; J J M Engelen
Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes.
American journal of medical genetics. Part A 2004;124A(3):288-91.
2004: Y M Hoedemaekers; M J K de Kleine; M J P L Stevens-Kroef; Eric E J Smeets; C T R M Schrander-Stumpel
Hypotriploidy 68,XX: a new case report and review of earlier cases.
Genetic counseling (Geneva, Switzerland) 2004;15(3):329-33.
2004: L Spruijt; JP Fryns; J Hanekom; J J M Engelen; M G P Alofs; J C M Albrechts; C T R M Schrander-Stumpel
A patient with a de novo 11q24.2-->qter deletion.
Genetic counseling (Geneva, Switzerland) 2004;15(1):1-7.
2003: Eric E J Smeets; Els Schollen; Ute Moog; Gert Matthijs; Jos Herbergs; H J M Smeets; Leopold M G Curfs; C T R M Schrander-Stumpel; Jean-Pierre Fryns
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
American journal of medical genetics. Part A 2003;122A(3):227-33.
2003: Ute Moog; J J M Engelen; C T R M Schrander-Stumpel; Jean-Pierre Fryns
Chromosome bands and ends revisited.
American journal of medical genetics. Part A 2003;121A(1):88-9.
2003: J J M Engelen; C T R M Schrander-Stumpel; P M V M Theunissen; G Vaes-Peeters; J C M Albrechts; A J H Hamers
Characterization of a chromosome 8-derived minute marker chromosome using microdissection and FISH in a boy with growth retardation.
American journal of medical genetics. Part A 2003;118A(3):274-8.
2003: J E A Staals; C T R M Schrander-Stumpel; G Hamers; J P Fryns
Prenatal diagnosis of trisomy 12 mosaicism: normal development of a 3 years old female child.
Genetic counseling (Geneva, Switzerland) 2003;14(2):233-7.
2003: G Rodríguez Criado; A Pérez Aytés; F Martínez; Y J Vos; Edwin Verlind; A González-Meneses López; I Gómez de Terreros Sánchez; C T R M Schrander-Stumpel
X-linked hydrocephalus: another two families with an L1 mutation.
Genetic counseling (Geneva, Switzerland) 2003;14(1):57-65.
2003: Ute Moog; Eric E J Smeets; Kees E P van Roozendaal; Sam Schoenmakers; Jos Herbergs; Anneke M J Schoonbrood-Lenssen; C T R M Schrander-Stumpel
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(1):5-12.
2002: Harm C A Graat; Lodewijk W van Rhijn; C T R M Schrander-Stumpel; André Van Ooij
Classical Scheuermann disease in male monozygotic twins: further support for the genetic etiology hypothesis.
Spine 2002;27(22):E485-7.
2002: Taosheng Huang; Angela E Lin; Gerald F Cox; Wendy L Golden; Gerald L Feldman; Moog Ute; C T R M Schrander-Stumpel; Mitsuhiro Kamisago; Stefan Vermeulen
Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(6):464-7.
2002: Liesbeth Spruijt; koenraad devriendt; Jos P M Offermans; Sjoerd Bulstra; C T R M Schrander-Stumpel
VATER--tibia aplasia association: report on two patients.
Clinical dysmorphology 2002;11(4):283-7.
2002: Eric Legius; C T R M Schrander-Stumpel; Els Schollen; C Pulles-Heintzberger; Marc Gewillig; Jean-Pierre Fryns
PTPN11 mutations in LEOPARD syndrome.
Journal of medical genetics 2002;39(8):571-4.
2002: Henriette ter Heide; Sjoerd K Bulstra; Ad Reekers; Jaap J P Schrander; C T R M Schrander-Stumpel
Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome.
American journal of medical genetics 2002;110(4):359-64.
2001: Ute Moog; N J Jansen; G Scherer; C T R M Schrander-Stumpel
Acampomelic campomelic syndrome.
American journal of medical genetics 2001;104(3):239-45.
2001: Ute Moog; C E M de Die-Smulders; C T R M Schrander-Stumpel; J J M Engelen; A J H Hamers; Suzanna G M Frints; Jean-Pierre Fryns
Holoprosencephaly: the Maastricht experience.
Genetic counseling (Geneva, Switzerland) 2001;12(3):287-98.
2001: Carlo L M Marcelis; C T R M Schrander-Stumpel; J J M Engelen; Anneke M J Schoonbrood-Lenssen; A Willemse; Frits A Beemer; Sabine Sigaudy; Chantal Missirian; Nicole Philip; Jean-Pierre Fryns
Wolf-Hirschhorn (4P-) syndrome in adults.
Genetic counseling (Geneva, Switzerland) 2001;12(1):35-48.
2000: M Veugelers; B D Cat; Serge Muyldermans; Gunter Reekmans; Nathalie Delande; Suzanna G M Frints; Eric Legius; Jean-Pierre Fryns; C T R M Schrander-Stumpel; B Weidle; N Magdalena; Guido David
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.
Human molecular genetics 2000;9(9):1321-8.
2000: Edgar G A H van Mil; Klaas R Westerterp; Arnold D M Kester; Leopold M G Curfs; Willem-Jan M Gerver; C T R M Schrander-Stumpel; Wim H M Saris
Activity related energy expenditure in children and adolescents with Prader-Willi syndrome.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 2000;24(4):429-34.
2000: E A van Mil; Klaas R Westerterp; Willem-Jan M Gerver; Leopold M G Curfs; C T R M Schrander-Stumpel; Arnold D M Kester; Wim H M Saris
Energy expenditure at rest and during sleep in children with Prader-Willi syndrome is explained by body composition.
The American journal of clinical nutrition 2000;71(3):752-6.
2000: Y H J M Arens; A Toutain; J J M Engelen; JP Offermans; A J H Hamers; Jaap J P Schrander; CF Pulles-Heintzberger; C T R M Schrander-Stumpel
Trisomy 7p: report of 2 patients and literature review.
Genetic counseling (Geneva, Switzerland) 2000;11(4):347-54.
2000: D J Mertens; C E M de Die-Smulders; P H Kampschöer; JP Offermans; J J M Engelen; A J H Hamers; M Lammens; C T R M Schrander-Stumpel
14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies.
Genetic counseling (Geneva, Switzerland) 2000;11(4):341-6.
2000: L Spruijt; M van der Blij-Philipsen; J J M Engelen; C T R M Schrander-Stumpel
An adult patient with a distal interstitial 14q deletion: clinical report and literature review.
Genetic counseling (Geneva, Switzerland) 2000;11(4):335-40.
2000: M Bal; C T R M Schrander-Stumpel; LE Meers; P M V M Theunissen; A J H Hamers; M J Wennekes; J J M Engelen
De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism.
Genetic counseling (Geneva, Switzerland) 2000;11(3):221-7.
2000: J J M Engelen; J H Tuerlings; J C M Albrechts; C T R M Schrander-Stumpel; A J H Hamers; C E M de Die-Smulders
Prenatally detected marker chromosome identified as an i(22)(p10) using (micro)FISH.
Genetic counseling (Geneva, Switzerland) 2000;11(1):13-7.
1999: Ute Moog; P Maroteaux; C T R M Schrander-Stumpel; André Van Ooij; Jaap J P Schrander; Jean-Pierre Fryns
Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?
Journal of medical genetics 1999;36(11):856-8.
1999: C T R M Schrander-Stumpel
Preconception care: challenge of the new millennium?
American journal of medical genetics 1999;89(2):58-61.
1999: J J M Engelen; WJ Loots; J C M Albrechts; C T R M Schrander-Stumpel; R Dirckx; H J M Smeets; A J H Hamers; Joep P M Geraedts
Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.
Genetic counseling (Geneva, Switzerland) 1999;10(2):123-32.
1998: Ute Moog; E M Bleeker-Wagemakers; P Crobach; J S Vles; C T R M Schrander-Stumpel
Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?
American journal of medical genetics 1998;78(3):263-6.
1998: C T R M Schrander-Stumpel; Jean-Pierre Fryns
Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.
European journal of pediatrics 1998;157(5):355-62.
1998: J J van den Ende; C T R M Schrander-Stumpel; E Rupprecht; P Meinecke; P Maroteaux; C de Die-Smulders; Ben C J Hamel
The cerebro-costo-mandibular syndrome: seven patients and review of the literature.
Clinical dysmorphology 1998;7(2):87-95.
1998: C Schaap; M P ten Tusscher; Jaap J P Schrander; R H Kuijten; C T R M Schrander-Stumpel
Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes: are they related?
European journal of pediatrics 1998;157(2):170-1.
1998: C T R M Schrander-Stumpel; H Sijstermans; Leopold M G Curfs; J P Fryns
Sudden death in children with Prader-Willy syndrome: a call for collaboration.
Genetic counseling (Geneva, Switzerland) 1998;9(3):231-2.
1998: Ute Moog; Anneke M J Schoonbrood-Lenssen; C T R M Schrander-Stumpel; Jean-Pierre Fryns
Spasticity, mental retardation, macrocephaly and distinct craniofacial appearance: confirmation of a new subtype of complicated spastic paraplegia?
Genetic counseling (Geneva, Switzerland) 1998;9(3):211-3.
1998: C T R M Schrander-Stumpel; W P Rijnvos; M van der Blij-Philipsen; A Drogtrop; Dominique Smeets; J P Fryns
Preaxial polydactyly in the 4p- syndrome.
Genetic counseling (Geneva, Switzerland) 1998;9(1):63-5.
1998: Suzanna G M Frints; C T R M Schrander-Stumpel; E F Schoenmakers; J J M Engelen; A B Reekers; A M Van den Neucker; Eric E J Smeets; H Devlieger; Jean-Pierre Fryns
Strong variable clinical presentation in 3 patients with 7q terminal deletion.
Genetic counseling (Geneva, Switzerland) 1998;9(1):5-14.
1997: K Chandler; C T R M Schrander-Stumpel; J J M Engelen; P M V M Theunissen; J P Fryns
Partial trisomy 15q: report of a patient and literature review.
Genetic counseling (Geneva, Switzerland) 1997;8(2):91-7.
1997: G Van de Graaf; J M Sijstermans; J J M Engelen; C T R M Schrander-Stumpel
Mild phenotype in interstitial 4p deletion: another patient and review of the literature.
Genetic counseling (Geneva, Switzerland) 1997;8(1):13-8.
1996: Ute Moog; J J M Engelen; J C M Albrechts; T Hoorntje; fred hendrikse; C T R M Schrander-Stumpel
Alagille syndrome in a family with duplication 20p11.
Clinical dysmorphology 1996;5(4):279-88.
1996: L J Evers; C T R M Schrander-Stumpel; J J M Engelen; T M Hoorntje; C F Pulles-Heintzberger; Jaap J P Schrander; J C M Albrechts; J Peters; J P Fryns
Deletion of the long arm of chromosome 6: two new patients and literature review.
Clinical genetics 1996;50(3):138-44.
1996: Frans A Hol; M P Geurds; S Chatkupt; Yin Yao Shugart; R Balling; C T R M Schrander-Stumpel; William G Johnson; Ben C J Hamel; Edwin C M Mariman
PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.
Journal of medical genetics 1996;33(8):655-60.
1996: Suzanna G M Frints; C T R M Schrander-Stumpel; J J M Engelen; A J Da Costa; J P Fryns
Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review.
Genetic counseling (Geneva, Switzerland) 1996;7(2):135-42.
1996: C T R M Schrander-Stumpel; S van der Meer; C E M de Die-Smulders; P Meinecke; E Rupprecht; P Maroteaux; J Schrander; J P Fryns
Cerebro-costo-mandibular syndrome: a follow-up study with 6 patients.
Genetic counseling (Geneva, Switzerland) 1996;7(1):71-2.
1995: C E M de Die-Smulders; J J M Engelen; C T R M Schrander-Stumpel; L C P Govaerts; Bert B A de Vries; J S Vles; A Wagemans; S Schijns-Fleuren; G Gillessen-Kaesbach; J P Fryns
Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature.
American journal of medical genetics 1995;59(3):369-74.
1995: J Schrander; C T R M Schrander-Stumpel; J Berg; J L Frias
Opitz BBBG syndrome: new family with late-onset, serious complication.
Clinical genetics 1995;48(2):76-9.
1995: C T R M Schrander-Stumpel; C F Pulles-Heintzberger; J P Fryns
Clinical follow up of a girl with "mental retardation with pterygia, shortness and distinct facial appearance" (Haspeslagh syndrome)
Clinical genetics 1995;47(6):332-4.
1995: C T R M Schrander-Stumpel; C Höweler; M Jones; A Sommer; C Stevens; S Tinschert; J Israel; J P Fryns
Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.
American journal of medical genetics 1995;57(1):107-16.
1995: A M Zwamborn-Hanssen; C T R M Schrander-Stumpel; Eric E J Smeets; P Decock; J P Fryns
FG syndrome: the trias mental retardation, hypotonia and constipation reviewed.
Genetic counseling (Geneva, Switzerland) 1995;6(4):313-9.
1995: C Schaap; C T R M Schrander-Stumpel; E T Colla-Pijkels; J Van Driessche; R Kusters; J P Fryns
A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded male patients: the Rekem experience.
Genetic counseling (Geneva, Switzerland) 1995;6(3):251-8.
1995: Astrid S Plomp; C T R M Schrander-Stumpel; J J M Engelen; J M Sijstermans; W H Loneus; J P Fryns
Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature.
Genetic counseling (Geneva, Switzerland) 1995;6(1):55-60.
1995: C T R M Schrander-Stumpel; C J Höweler; J P Fryns
X-linked mental retardation and neurological symptoms: a nosological approach.
Genetic counseling (Geneva, Switzerland) 1995;6(1):21-32.
1994: C T R M Schrander-Stumpel; M Havenith; E V Linden; WJ Maertzdorf; JP Offermans; J van der Harten
De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected].
Clinical dysmorphology 1994;3(4):318-27.
1994: C E M de Die-Smulders; C T R M Schrander-Stumpel; J P Fryns; P Theunissen
Exclusively maternal transmission of autosomal dominant Brachmann-de Lange syndrome.
American journal of medical genetics 1994;52(3):363.
1994: C T R M Schrander-Stumpel; P Meinecke; G Wilson; Gabriele Gillessen-Kaesbach; S Tinschert; R König; N Philip; R Rizzo; J Schrander; L Pfeiffer
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.
European journal of pediatrics 1994;153(6):438-45.
1994: C T R M Schrander-Stumpel; L C P Govaerts; J J M Engelen; M van der Blij-Philipsen; M Borghgraef; W J Loots; J J Peters; W P Rijnvos; Dominique Smeets; J P Fryns
Mosaic tetrasomy 8p in two patients: clinical data and review of the literature.
American journal of medical genetics 1994;50(4):377-80.
1994: C T R M Schrander-Stumpel; Willem-Jan M Gerver; H Meyer; J J M Engelen; H Mulder; J P Fryns
Prader-Willi-like phenotype in fragile X syndrome.
Clinical genetics 1994;45(4):175-80.
1994: C T R M Schrander-Stumpel; H Meyer; D Merckx; M Jones; J Israel; A Sommer; C Stevens; S Tinschert; G Wilson; P Willems
The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.
Genetic counseling (Geneva, Switzerland) 1994;5(1):1-10.
1994: Willem-Jan M Gerver; A V Neucker; C T R M Schrander-Stumpel
A patient with pituitary growth hormone deficiency and May-Hegglin anomaly: a distinct entity?
Genetic counseling (Geneva, Switzerland) 1994;5(3):307-10.
1993: C E M de Die-Smulders; C T R M Schrander-Stumpel; J P Fryns
Familial occurrence of renal and müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay: a 4p deletion?
American journal of medical genetics 1993;47(6):936.
1993: Jaap J P Schrander; J P van den Bogart; P Ph Forget; C T R M Schrander-Stumpel; R H Kuijten; A D Kester
Cow's milk protein intolerance in infants under 1 year of age: a prospective epidemiological study.
European journal of pediatrics 1993;152(8):640-4.
1993: C T R M Schrander-Stumpel; C E M de Die-Smulders; M C T F M de Krom; S Schyns-Fleuran; B Hamel; D Jaeken; J P Fryns
Marden-Walker syndrome: case report, literature review and nosologic discussion.
Clinical genetics 1993;43(6):303-8.
1993: C T R M Schrander-Stumpel; P Theunissen; R Hulsmans; J P Fryns
Kabuki make-up (Niikawa-Kuroki) syndrome in a girl presenting with vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism.
Genetic counseling (Geneva, Switzerland) 1993;4(1):71-2.
1993: C T R M Schrander-Stumpel; C J Höweler; A D Reekers; N M De Smet; J G Hall; J P Fryns
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.
Journal of medical genetics 1993;30(1):78-80.
1993: C T R M Schrander-Stumpel; J B De Groot-Wijnands; C E M de Die-Smulders; J P Fryns
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum.
Genetic counseling (Geneva, Switzerland) 1993;4(4):271-6.
1993: L J Evers; C T R M Schrander-Stumpel; J J M Engelen; H Mulder; M Borghgraef; J P Fryns
Terminal deletion of long arm of chromosome 4: patient report and literature review.
Genetic counseling (Geneva, Switzerland) 1993;4(2):139-45.
1992: C T R M Schrander-Stumpel; Arthur Spaepen; J P Fryns; J Dumon
A severe case of mandibuloacral dysplasia in a girl.
American journal of medical genetics 1992;43(5):877-81.
1992: C T R M Schrander-Stumpel; C E M de Die-Smulders; Raoul Hennekam; J P Fryns; P X Bouckaert; O F Brouwer; J J da Costa; E J Lommen; P D Maaswinkel-Mooy
Oculoauriculovertebral spectrum and cerebral anomalies.
Journal of medical genetics 1992;29(5):326-31.
1992: J P Fryns; C T R M Schrander-Stumpel; C E M de Die-Smulders; Martine Borghgraef; Herman Van Den Berghe
MASA syndrome: delineation of the clinical spectrum at prepubertal age.
American journal of medical genetics 1992;43(1-2):402-7.
1992: C T R M Schrander-Stumpel; J Fryns; J J Cassiman; Eric Legius; Arthur Spaepen; C J Höweler
MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.
Journal of medical genetics 1992;29(3):215.
1992: C E M de Die-Smulders; P Theunissen; C T R M Schrander-Stumpel; J P Frijns
On the variable expression of the Brachmann-de Lange syndrome.
Clinical genetics 1992;41(1):42-5.
1992: J J M Engelen; A J H Hamers; C T R M Schrander-Stumpel; H Mulder; B Poorthuis
Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype.
Cytogenetics and cell genetics 1992;60(3-4):208-9.
1992: C Schaap; C T R M Schrander-Stumpel; J P Fryns
Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly.
Genetic counseling (Geneva, Switzerland) 1992;3(4):209-15.
1992: A M Hanssen; C T R M Schrander-Stumpel; P A Thiry; J P Fryns
Fryns syndrome: another example of non-lethal outcome with severe mental handicap.
Genetic counseling (Geneva, Switzerland) 1992;3(4):187-93.
1991: Arthur Spaepen; C T R M Schrander-Stumpel; J P Fryns; C E M de Die-Smulders; Martine Borghgraef; Herman Van Den Berghe
Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?
American journal of medical genetics 1991;41(4):517-20.
1991: C T R M Schrander-Stumpel; J P Fryns; G Hamers
The partial monosomy 10q syndrome: report on two patients and review of the developmental data.
Journal of mental deficiency research 1991;35 ( Pt 3)():259-67.
1991: C T R M Schrander-Stumpel; J P Fryns; F A Beemer; F A Rive
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity.
American journal of medical genetics 1991;38(4):557-61.
1991: C T R M Schrander-Stumpel; P M Theunissen; R F Hulsmans; J P Fryns
Unknown. The combination of vitiligo vulgaris with somatic and psychomotor retardation, cleft palate and facial dysmorphism: a distinct entity?
Genetic counseling (Geneva, Switzerland) 1991;2(4):259-61.
1991: C T R M Schrander-Stumpel; J P Fryns; Jaap J P Schrander; J Vles
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence.
Genetic counseling (Geneva, Switzerland) 1991;2(2):69-75.
1990: C T R M Schrander-Stumpel; E Legius; J P Fryns; J J Cassiman
MASA syndrome: new clinical features and linkage analysis using DNA probes.
Journal of medical genetics 1990;27(11):688-92.
1990: C T R M Schrander-Stumpel; C E M de Die-Smulders; J P Fryns; J da Costa; P Bouckaert
Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.
American journal of medical genetics 1990;37(1):133-5.
1990: C T R M Schrander-Stumpel; J P Fryns; G G Hamers
Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21))
Clinical genetics 1990;37(3):226-9.
1990: C T R M Schrander-Stumpel; J Schrander; J P Fryns; G Hamers
Trisomy 17p due to a t(8;17) (p23;p11.2)pat translocation. Case report and review of the literature.
Clinical genetics 1990;37(2):148-52.
1990: C E M de Die-Smulders; C T R M Schrander-Stumpel; J P Fryns
The lethal multiple pterygium syndrome: a nosological approach.
Genetic counseling (Geneva, Switzerland) 1990;1(1):13-23.
1989: J S Vles; L J M Spaapen; C T R M Schrander-Stumpel; S van der Meer
Metabolic investigation of a patient with Rett syndrome.
European journal of pediatrics 1989;148(8):786.
1988: C T R M Schrander-Stumpel; M Haspeslagh; J P Fryns
Mental retardation with pterygia, shortness and distinct facial appearance. Confirmation of a new MCA/MR syndrome.
Clinical genetics 1988;34(4):279-81.
1988: C T R M Schrander-Stumpel; J Schrander; J P Fryns; G Hamers
Caudal deficiency sequence in 7q terminal deletion.
American journal of medical genetics 1988;30(3):757-61.