Sistermans EA - Search Results

1

Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.

Kremer H, Hamel BC, van den Helm B, Arts WF, de Wijs IJ, Sistermans EA, Ropers HH, Mariman EC. Kremer H, et al. Among authors: sistermans ea. Hum Genet. 1996 Nov;98(5):513-7. doi: 10.1007/s004390050250. Hum Genet. 1996. PMID: 8882866 Free article.

2

Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally.

Becking EC, Linthorst J, Patton S, Gutowska-Ding W, Goodall R, Khawaja F, Morgan F, Deans Z, Chitty LS, Bekker MN, Scheffer PG, Sistermans EA. Becking EC, et al. Among authors: sistermans ea. Clin Chem. 2023 Feb 1;69(2):160-167. doi: 10.1093/clinchem/hvac207. Clin Chem. 2023. PMID: 36576352

3

A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.

Sistermans EA, de Wijs IJ, de Coo RF, Smit LM, Menko FH, van Oost BA. Sistermans EA, et al. Hum Genet. 1996 Mar;97(3):337-9. doi: 10.1007/BF02185767. Hum Genet. 1996. PMID: 8786077 Free article.

4

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

Willemsen R, Smits A, Mohkamsing S, van Beerendonk H, de Haan A, de Vries B, van den Ouweland A, Sistermans E, Galjaard H, Oostra BA. Willemsen R, et al. Hum Genet. 1997 Mar;99(3):308-11. doi: 10.1007/s004390050363. Hum Genet. 1997. PMID: 9050914 Free article.

5

A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.

de Coo IF, Sistermans EA, de Wijs IJ, Catsman-Berrevoets C, Busch HF, Scholte HR, de Klerk JB, van Oost BA, Smeets HJ. de Coo IF, et al. Among authors: sistermans ea. Neurology. 1998 Jan;50(1):293-5. doi: 10.1212/wnl.50.1.293. Neurology. 1998. PMID: 9443499

6

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.

Sistermans EA, de Coo RF, De Wijs IJ, Van Oost BA. Sistermans EA, et al. Neurology. 1998 Jun;50(6):1749-54. doi: 10.1212/wnl.50.6.1749. Neurology. 1998. PMID: 9633722

7

Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.

Hundscheid RD, Sistermans EA, Thomas CM, Braat DD, Straatman H, Kiemeney LA, Oostra BA, Smits AP. Hundscheid RD, et al. Among authors: sistermans ea. Am J Hum Genet. 2000 Feb;66(2):413-8. doi: 10.1086/302774. Am J Hum Genet. 2000. PMID: 10677300 Free PMC article.

8

Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

Sistermans EA, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA. Sistermans EA, et al. Eur J Hum Genet. 2000 Jul;8(7):557-60. doi: 10.1038/sj.ejhg.5200477. Eur J Hum Genet. 2000. PMID: 10909858

9

Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Lee HH, de Wijs IJ, Sistermans EA. Lee HH, et al. Among authors: sistermans ea. Mol Genet Metab. 2000 Aug;70(4):322-4. doi: 10.1006/mgme.2000.3023. Mol Genet Metab. 2000. PMID: 10993720

10

MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.

Geerdink N, Rotteveel JJ, Lammens M, Sistermans EA, Heikens GT, Gabreëls FJ, Mullaart RA, Hamel BC. Geerdink N, et al. Among authors: sistermans ea. Neuropediatrics. 2002 Feb;33(1):33-6. doi: 10.1055/s-2002-23598. Neuropediatrics. 2002. PMID: 11930274

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