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  • 1
    Electronic Resource
    Electronic Resource
    Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13 (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 509-510 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary DNA markers YNZ22.1, YNH37.3, 144D6 and VAW508 were studied in a patient with the isolated lissencephaly sequence (ILS). A normal karyotype was found in the patient. The DNA of the patient showed deletions of markers YNZ22.1 and YNH37.3. This is the first report of a case of ILS (with grade 3 lissencephaly) with a submicroscopic deletion. The presence of a micro deletion in 17p13 in an ILS patient indicates that Miller-Dieker syndrome and ILS have a common etiology.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00197179
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  • 2
    Electronic Resource
    Electronic Resource
    The mutation ΔF508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 407-408 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We tested 190 chromosomes from Dutch cystic fibrosis (CF) patients and carriers for the presence or absence of the major CF mutation ΔF508. This mutation was found on 77% of the Dutch CF chromosomes. We observed a significant difference in the distribution of the ages at diagnosis between homozygotes for ΔF508 and the other patients. ΔF508 homozygotes tend to be identified as patients at neonatal or infantile age. The age at diagnosis of patients with at least one unknown allele, on the other hand, ranged between neonatal and young adult age.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02428281
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  • 3
    Electronic Resource
    Electronic Resource
    The cystic fibrosis defect approached from different angles — new perspectives on the gene, the chloride channel, diagnosis and therapy (1990)
    Springer
    European journal of pediatrics 149 (1990), S. 670-677 
    Details
    ISSN: 1432-1076
    Keywords: Cystic fibrosis ; Gene ; Genetic counseling ; Chloride channels
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The search for the basic defect in cystic fibrosis (CF) has reached a decisive stage since the recent identification of the responsible gene. Electrophysiological and biochemical research had defined the CF defect as a dysregulation of epithelial chloride channels. The putative protein product of the now identified gene shares properties with other known transport proteins, but it is not necessarily itself a chloride channel protein. Elucidation of the primary cellular defect will certainly have important aetiological and hopefully therapeutic implications. The identification of the major gene mutation already has significant consequences for genetic counselling and prenatal diagnosis. Heterozygote detection at the population level awaits identification of the probably heterogenous mutations on about 30% of the CF chromosomes. At present, about 50% of CF patients are homozygous for the recently identified major CF mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01959519
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  • 4
    Electronic Resource
    Electronic Resource
    Diagnostic delay in neurofibromatosis type 1 (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 482-487 
    Details
    ISSN: 1432-1076
    Keywords: Key words Diagnostic delay  ;  Genetic counselling  ;   Neurofibromatosis  ;  Prenatal diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Since 1985 a multidisciplinary team in the Sophia Children's University Hospital in Rotterdam provides diagnostic follow up and genetic counselling services for neurofibromatosis type 1 (NF1) patients and their families. Parents of 68 affected children as well as 24 affected parents were interviewed. Of the affected children, 50% and 33% of the affected adults were treated for symptoms related to NF1 before a specific diagnosis was made. Although the disease is fully penetrant by the age of 5 years, 35% of the affected children had not been diagnosed by this age. Parents stated a preference for early diagnosis of NF1. Diagnosis of NF1 did not seem to be a reason to refrain from having children. The general attitude towards prenatal diagnosis was positive; however few parents would actually terminate an affected pregnancy. Conclusion Overall delay in diagnosis of NF1 is significant. Knowledge of symptoms should make an early diagnosis possible with beneficial effects for the patient and family members.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050644
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  • 5
    Electronic Resource
    Electronic Resource
    Approaches to Genetic Counseling (1991)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 630 (1991), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1991.tb19591.x
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  • 6
    Electronic Resource
    Electronic Resource
    Genetic amniocentesis in twin pregnancies (1988)
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 95 (1988), S. 0 
    Details
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary. Eighty-three patients with twin pregnancies were seen at the University Hospital of Rotterdam between 1 January 1980 and 31 August 1985 for prenatal genetic studies. No abnormal karyotypes were found. Amniotic fluid was successfully obtained from both amniotic sacs in 77 patients. In two pregnancies elevated levels of alpha-fetoprotein (AEP) were found in both sacs. One of these pregnancies was terminated and the other continued until term. One pregnancy miscarried 4 weeks after amniocentesis at 19 weeks gestation; three women were delivered between 23 and 28 weeks, 36 at between 28 and 37 weeks and 42 women after 37 weeks. The perinatal mortality rate was 55/1000 (9 of 164). These results show that genetic amniocentesis is a safe and reliable technique in twin pregnancy but the interpretation of elevated AFP levels is complicated by the fact that AFP diffuses across the amniotic membranes between the two sacs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1471-0528.1988.tb06599.x
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  • 7
    Electronic Resource
    Electronic Resource
    Limitations of visualization of the entire fetus by means of second-trimester fetoscopy (1977)
    Springer
    Archives of gynecology and obstetrics 222 (1977), S. 1-4 
    Details
    ISSN: 1432-0711
    Keywords: Fetoscopy ; Fetal visualization ; Fetal biopsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Fetoscopy with rigid fiber optics was performed under general anesthesia in 9 patients scheduled for therapeutic abortion by hysterotomy with a duration of pregnancy between 12 and 18 weeks. Visualization of fetus and placenta was found to be at random chance and incomplete, and could not be improved by internal or external manipulation. Skin biopsies were obtained in 5 cases. The cord could be recognized in all cases. It is concluded that the haphazard and incomplete visualization of the uterine contents at present precludes the application of second-trimester fetoscopy for early detection of visible congenital fetal abnormalities.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00670852
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  • 8
    Electronic Resource
    Electronic Resource
    Transport and storage of amniotic fluid samples for prenatal diagnosis of metabolic diseases (1973)
    Springer
    Human genetics 〈Berlin〉 20 (1973), S. 175-178 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung 1. Eine Einfriermethode für nichtkultivierte Fruchtwasserzellen wird beschrieben, wodurch man diese wie Kontrollmuster anwenden kann bei pränataler Diagnostik von Stoffwechselkrankheiten. 2. Fruchtwasserzellen wurden erfolgreich kultiviert nach langzeitigem Transport (7 Tage); dieser Befund bringt eine pränatale Diagnostik im Bereich entfernt von spezialisierten Zentren lebender Eltern.
    Notes: Summary 1. A method for freezing uncultured amniotic fluid cells is presented, which allows their use as pregnancy-age matched controls in prenatal diagnosis of metabolic diseases. 2. Amniotic fluid cells were successfully cultured after up to 7 days in transport, which makes prenatal diagnosis available to parents living a long way from specialized centers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00284856
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  • 9
    Electronic Resource
    Electronic Resource
    Rapid prenatal diagnosis of GM1-gangliosidosis using microchemical methods (1976)
    Springer
    Human genetics 〈Berlin〉 33 (1976), S. 299-305 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Prenatal diagnoses were established in 3 pregnancies at risk for GM1-gangliosidosis at 9, 10, and 12 days after amniocentesis. β-galactosidase activities in cultured amniotic fluid cells were determined by microchemical assays in cell homogenates and in isolated groups of 10–30 freeze-dried cells. The latter method requires only a few hundred cells growing in one or more clones and will usually allow a diagnosis within 9–12 days after amniocentesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286856
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  • 10
    Electronic Resource
    Electronic Resource
    Antenatal diagnosis of renal tract anomalies by ultrasound (1987)
    Springer
    Pediatric nephrology 1 (1987), S. 546-552 
    Details
    ISSN: 1432-198X
    Keywords: Prenatal ultrasound ; Cystic kidney disease ; Renal tract malformation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A first group of 141 pregnant women carrying children at risk of a renal tract anomaly, because of a positive family history was referred to our obstetrical ultrasound department. Prenatal ultrasound examination revealed an abnormality of the urinary tract in 8%. A recurrence was observed under the following conditions: renal agenesis, multicystic kidney and urethral obstruction, but not in ureteral obstruction. In two children renal abnormalities were not detected until after birth, one child having an autosomal recessive and the other an autosomal dominant form of polycystic kidney disease. The large variation in the prenatal manifestation of cystic kidney disorders requires that predictions of possible recurrence on the basis of repeated ultrasound examinations should be made with great care. A second group of 98 pregnant women was referred because of a suspected renal abnormality found by ultrasound in the absence of a previous family history. In 64% a malformation of the urinary tract was confirmed (31 with obstructive uropathy and 32 with cystic kidneys). In almost half of the cases with subvesical obstruction or with cystic kidney disease a structural defect of extrarenal organs was present.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00849268
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