C Stoll

Summary

Country: France

Publications

  1. ncbi Familial cylindromatosis
    C Stoll
    Service de Genetique Medicale, Strasbourg Hôpital de Hautepierre
    Genet Couns 15:175-82. 2004
  2. ncbi Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene
    C Stoll
    Service de Genetique Medicale, Hopital de Hautepierre, Avenue Moliere, 67098 cedex, Strasbourg, France
    Ann Genet 45:59-62. 2002
  3. ncbi Multiple congenital malformations including generalized hypertrichosis with gum hypertrophy in a child exposed to valproic acid in utero
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Genet Couns 14:289-98. 2003
  4. ncbi Pseudoachondroplasia with cerebral and renal cysts
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Genet Couns 13:139-46. 2002
  5. ncbi Difficulties in the diagnosis of neurofibomatosis-1 in children
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Am J Med Genet 112:422-6. 2002
  6. ncbi Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies
    Claude Stoll
    Service de Genetique Medicale, Hopital de Hautepierre, Centre Hospitalo Universitaire, Strasbourg, France
    Ann Genet 45:115-21. 2002
  7. ncbi An unusual human mosaic for skin pigmentation
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Genet Couns 13:281-7. 2002
  8. ncbi Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Genet Couns 13:289-95. 2002
  9. ncbi Polysyndactyly, complex heart malformations cardiopathy, and hepatic ductal plate anomalies: an autosomal recessive syndrome diagnosed antenatally
    Claude Stoll
    Service de Genetique Medicale, Hopital de Hautepierre, Strasbourg Cedex, France
    Am J Med Genet A 119:223-7. 2003
  10. ncbi Study of placenta of children born with congenital malformations
    Claude Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Ann Genet 46:1-5. 2003

Collaborators

Detail Information

Publications41

  1. ncbi Familial cylindromatosis
    C Stoll
    Service de Genetique Medicale, Strasbourg Hôpital de Hautepierre
    Genet Couns 15:175-82. 2004
    ..The gene of familial cylindromatosis was localised to chromosome 16q12-q13 and it was proposed that this gene is a tumor supressor gene...
  2. ncbi Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene
    C Stoll
    Service de Genetique Medicale, Hopital de Hautepierre, Avenue Moliere, 67098 cedex, Strasbourg, France
    Ann Genet 45:59-62. 2002
    ..An older brother had hydrocephaly, bilateral optic atrophy and mental retardation. A younger sister is unaffected. A mutation, an insertion of a G leading to a frameshift in the OFD 1 gene, was identified in this patient...
  3. ncbi Multiple congenital malformations including generalized hypertrichosis with gum hypertrophy in a child exposed to valproic acid in utero
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Genet Couns 14:289-98. 2003
    ..Gum hypertrophy and hypertrichosis may be part of a broader pattern of altered morphogenesis in fetus exposed to valproic acid or this patient had two conditions, fetal valproate syndrome and hypertrichosis with gum fibromatosis...
  4. ncbi Pseudoachondroplasia with cerebral and renal cysts
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Genet Couns 13:139-46. 2002
    ..At 26 years of age he complained of pain in the knees, swallowing difficulties, and vertigo. Renal ultrasonographic examination showed a large cortical cyst of the right kidney and smaller cysts in both kidney...
  5. ncbi Difficulties in the diagnosis of neurofibomatosis-1 in children
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Am J Med Genet 112:422-6. 2002
  6. ncbi Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies
    Claude Stoll
    Service de Genetique Medicale, Hopital de Hautepierre, Centre Hospitalo Universitaire, Strasbourg, France
    Ann Genet 45:115-21. 2002
    ..4%). In conclusion, the introduction of routine prenatal diagnosis has resulted in a significant fall in the birth prevalence of children with congenital anomalies. However, this fall varied with the types of congenital anomalies...
  7. ncbi An unusual human mosaic for skin pigmentation
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Genet Couns 13:281-7. 2002
    ..The present case stresses the importance of careful chromosomal analysis of different tissues in patients with pigmentary anomalies...
  8. ncbi Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Genet Couns 13:289-95. 2002
    ..Bone density was decreased. At 2 years of age development was delayed. Weight was - 3,5 SD and OFC - 3SD. The child had craniosynostosis. Molecular studies showed 2 missense mutations, both in exon 6 of the TNSALP gene...
  9. ncbi Polysyndactyly, complex heart malformations cardiopathy, and hepatic ductal plate anomalies: an autosomal recessive syndrome diagnosed antenatally
    Claude Stoll
    Service de Genetique Medicale, Hopital de Hautepierre, Strasbourg Cedex, France
    Am J Med Genet A 119:223-7. 2003
    ..The sibs described in this report had anomalies of the ductal plate which were not reported in the two other families. These new findings are in favor of autosomal inheritance of this condition which is amenable to antenatal diagnosis...
  10. ncbi Study of placenta of children born with congenital malformations
    Claude Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Ann Genet 46:1-5. 2003
    ..The human placenta discounts a principal functional part, the maternal blood in the intervillous space. Congenital malformations may interact with this function...
  11. ncbi Macrocephaly-cutis marmorata telangiectatica congenita: report of a patient with a translocation
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, 67000 Strasbourg, France
    Genet Couns 14:173-9. 2003
    ..It can be postulated that in the present patient the translocation breakpoints disrupted one or more genes entailing skin lesions but also other features: mental retardation, macrocephaly and facial dysmorphia...
  12. ncbi Limb reduction defects in the first generation and deafness in the second generation of intrauterine exposed fetuses to diethylstilbestrol
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Hopital de Hautepierre, Avenue Moliere, 67098 Strasbourg, France
    Ann Genet 46:459-65. 2003
    ..However, some hypothesis may explain these associations. Congenital hearing loss in the second generation may suggest a transgenerational effect...
  13. ncbi [Preimplantation diagnosis]
    C Stoll
    Service de Genetique Medicale, Hopital de Hautepierre, Avenue Moliere, 67098 Strasbourg, France
    Arch Pediatr 9:67s. 2002
  14. ncbi Evaluation and evolution during time of prenatal diagnosis of congenital heart diseases by routine fetal ultrasonographic examination
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Hopital de Hautepierre, Avenue Moliere, 67098 Strasbourg, France
    Ann Genet 45:21-7. 2002
    ..Gestational age at discovery was 20-24 weeks for the majority of associated cardiac defects. The prenatal detection rate of CHD increased during time from 1979 to 1999...
  15. ncbi Associated malformations in cases with oral clefts
    C Stoll
    Medical Genetics Department of Hautepierre, Strasbourg, France
    Cleft Palate Craniofac J 37:41-7. 2000
    ..The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalence of associated malformations in a geographically defined population...
  16. ncbi Evaluation of prenatal diagnosis of cleft lip/palate by foetal ultrasonographic examination
    C Stoll
    Service de Genetique Medicale, Hopital de Hautepierre, Centre Hospitalo Universitaire, Strasbourg, France
    Ann Genet 43:11-4. 2000
    ....
  17. ncbi Progressive osseous heteroplasia: an uncommon cause of ossification of soft tissues
    C Stoll
    Service de Genetique Medicale, Hopital de Hautepierre, Avenue Moliere, 67098 cedex, Strasbourg, France
    Ann Genet 43:75-80. 2000
    ..Until the results of Rosenfeld and Kaplan in 1995 reporting POH in two boys, typical features had only been reported in females (n=8). POH is usually sporadic; however, familial associations and atypical phenotypes have been reported...
  18. ncbi Evaluation of the prenatal diagnosis of limb reduction deficiencies. EUROSCAN Study Group
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Prenat Diagn 20:811-8. 2000
    ..6% (6 out of 9), 57.1% (8 out of 14) and 0 (0 out of 2), respectively. The prenatal detection rate of LRDs varied in relation with the ultrasound screening policies from 20.0% to 64.0% in countries with at least one routine fetal scan...
  19. ncbi Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe
    C Stoll
    Centre Hospitalo Universitaire, Strasbourg, France
    Prenat Diagn 21:243-52. 2001
    ..Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20-24 weeks for the majority of associated cardiac defects...
  20. ncbi Problems in the diagnosis of fragile X syndrome in young children are still present
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Am J Med Genet 100:110-5. 2001
    ..Careful clinical examination of young children and DNA screening in case of doubt, and education of professionals in medical specialty areas, behavioral sciences, education, and other fields are recommended...
  21. ncbi On the symmetry of limb deficiencies among children with multiple congenital anomalies
    C Stoll
    Service de Genetique Medicale, Hopital de Hautepierre, 67085, Strasbourg, France
    Ann Genet 44:19-24. 2001
    ..4 %) only the upper limbs were involved. In conclusion the left-right distribution of limb deficiencies among some non-limb anomalies may suggest a relationship between the development of the limb and the left-right axis of the embryo...
  22. ncbi Extrahepatic biliary atresia with laterality sequence anomalies
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Steasbourg, France
    Genet Couns 12:157-61. 2001
    ..This patient belongs to the first group...
  23. ncbi Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years
    C Stoll
    Service de Genetique Medicale, Hopital de Hautepierre, Strasbourg, France
    Clin Dysmorphol 11:1-7. 2002
    ..His foot deformities had improved and his joints were less hypermobile. Psychomotor development was quite normal. His main concern was the minimal subcutaneous fat and fragility of skin. Echocardiography was now normal...
  24. ncbi Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Genet Couns 12:231-5. 2001
    ..Bronchoscopy revealed anterior synechia of vocal cords with cricoidian stenosis. A tracheostomy was performed. Mental development was normal. No mutation of the zinc finger transcription factor gene, GLI 3 was detected...
  25. ncbi Severe hypernatremic dehydration in an infant with Netherton syndrome
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Strasbourg, France
    Genet Couns 12:237-43. 2001
    ..Molecular studies revealed a mutation in SPINK 5, encoding a serine protease inhibitor. Prenatal diagnosis was performed in the second pregnancy and showed that the fetus was equally affected...
  26. ncbi Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265,858 consecutive births
    C Stoll
    Service de Genetique Medicale, Centre Hospitalo Universitaire, Hopital de Hautepierre, Avenue Moliere, 67098 Strasbourg Cedex, France
    Ann Genet 44:201-8. 2001
    ..Pregnancies with AWD were more often complicated by threatened abortion, oligohydramnios and polyhydramnios. Mothers of children with AWD took more often medication during pregnancy than mothers of controls...
  27. ncbi Associated malformations in cases with congenital diaphragmatic hernia
    C Stoll
    Génétique Médicale, Faculte de Medecine, Strasbourg, France
    Genet Couns 19:331-9. 2008
    ..Geneticists and pediatricians should be aware that the malformations associated with CDH can often be classified into a recognizable malformation syndrome or pattern (57.1%)...
  28. ncbi Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe
    C Stoll
    Centre Hospitalo Universitaire, Strasbourg, France
    Ultrasound Obstet Gynecol 21:543-51. 2003
    ..Ultrasound scan in the mid-trimester of pregnancy is now a routine part of prenatal care in most European countries. The objective of this study was to evaluate the prenatal diagnosis of dysmorphic syndromes by fetal ultrasound examination...
  29. ncbi Associated malformations in cases with neural tube defects
    C Stoll
    Génétique Médicale, Faculte de Medecine, Strasbourg, France
    Genet Couns 18:209-15. 2007
    ..A routine screening for other malformations especially facial clefts, musculoskeletal, renal and cardiac anomalies may need to be considered in infants with NTDs, and genetic counseling seems warranted in most of these complicated cases...
  30. ncbi Associated malformations among infants with radial ray deficiency
    C Stoll
    Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France
    Genet Couns 24:223-34. 2013
    ....
  31. ncbi Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy
    C Stoll
    Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France
    Genet Couns 15:411-20. 2004
    ..Acquired in utero CDP were excluded. We suggest the sibs described in this report have yet another provisionally unique possibly autosomal recessive syndrome, with CDP and epilepsy as phenotypic traits...
  32. ncbi Chromosomal region 13q21q31 and heterochrony of development
    C Stoll
    Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France
    Genet Couns 16:371-6. 2005
    ..In conclusion this case with sexual precocity and small final stature could be an example of progenesis, rising the question of the presence of a critical region for human evolution within chromosomal region 13q21q31...
  33. ncbi Prenatal ultrasonographic detection of gastrointestinal obstruction: results from 18 European congenital anomaly registries
    Martin C H Haeusler
    Styrian Malformation Registry at the Department of Obstetrics and Gynaecology, Karl Franzens University, Graz, Austria
    Prenat Diagn 22:616-23. 2002
    ..We evaluated the prenatal detection of gastrointestinal obstruction (GIO, including atresia, stenosis, absence or fistula) by routine ultrasonographic examination in an unselected population all over Europe...
  34. doi Omphalocele and gastroschisis and associated malformations
    Claude Stoll
    Génétique Médicale, Faculte de Medecine, Strasbourg, France
    Am J Med Genet A 146:1280-5. 2008
    ..Malformation surveillance programs should be aware that the malformations associated with omphalocele can be often classified into a recognizable malformation syndrome or pattern (44.2%)...
  35. ncbi Associated malformations in patients with oral clefts
    Claude Stoll
    Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France
    Am J Med Genet A 143:2463-5. 2007
  36. ncbi Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe
    Ester Garne
    University of Southern Denmark, Odense, Denmark
    Prenat Diagn 24:908-12. 2004
    ....
  37. ncbi Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"?
    Hester Y Kroes
    Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands
    Am J Med Genet A 129:149-55. 2004
    ..Therefore, use of the term "acrorenal syndrome" should be avoided...
  38. ncbi SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations
    Philippe Latour
    Neurogénétique, Laboratoire de Biochimie Pédiatrique, Hopital Debrousse, Lyon, France
    J Peripher Nerv Syst 11:148-55. 2006
    ..Motor conduction velocities in the median nerve ranked from 16.4 to 32.8 m/s (n = 20). In our series of 968 unrelated dominant demyelinating CMT cases (1992-2005), the percentage of SIMPLE mutations was 0.6 (6/968)...
  39. pmc International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?
    Lorenzo D Botto
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
    BMJ 330:571. 2005
    ..To evaluate the effectiveness of policies and recommendations on folic acid aimed at reducing the occurrence of neural tube defects...
  40. ncbi Sex and congenital malformations: an international perspective
    Alessandra Lisi
    International Centre on Birth Defects, Rome, Italy
    Am J Med Genet A 134:49-57. 2005
    ..Finally, the findings underscore the need for clinical classification (e.g., into isolated, multiple, syndromes) in studies of birth defects...
  41. ncbi Trends of selected malformations in relation to folic acid recommendations and fortification: an international assessment
    Lorenzo D Botto
    Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Birth Defects Res A Clin Mol Teratol 76:693-705. 2006
    ....