Published in Genet Couns on January 01, 2000
What's in a name? Am J Med Genet (1998) 2.13
Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet Couns (2001) 1.45
Fryns syndrome: another example of non-lethal outcome with severe mental handicap. Genet Couns (1992) 1.40
Misinterpretation of trisomy 18 as a pseudomosaicism at third-trimester amniocentesis of a child with a mosaic 46,XY/47,XY, +3/48,XXY, +18 karyotype. Prenat Diagn (1997) 1.39
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. Am J Hum Genet (1999) 1.18
Cow's milk protein intolerance in infants under 1 year of age: a prospective epidemiological study. Eur J Pediatr (1993) 1.11
Duplication of chromosome region 8p23.1-->p23.3: a benign variant? Am J Med Genet (2000) 1.04
Decreased fertilization rate and embryo quality after ICSI in oligozoospermic men with microdeletions in the azoospermia factor c region of the Y chromosome. Hum Reprod (2001) 1.02
Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. Am J Med Genet (1995) 1.00
Letter: Superoxide dismutase in Down syndrome. Lancet (1975) 0.96
Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4. Pediatr Dermatol (1993) 0.93
Acampomelic campomelic syndrome. Am J Med Genet (2001) 0.93
Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. J Med Genet (1998) 0.93
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. Ann Hum Genet (2001) 0.93
Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation. J Med Genet (1977) 0.92
Reproductive decisions of men with microdeletions of the Y chromosome: the role of genetic counselling. Hum Reprod (1999) 0.91
A simple and efficient method for microdissection and microFISH. J Med Genet (1998) 0.90
Trisomy 7p: report of 2 patients and literature review. Genet Couns (2000) 0.90
Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic. Hum Reprod (1997) 0.89
Energy expenditure at rest and during sleep in children with Prader-Willi syndrome is explained by body composition. Am J Clin Nutr (2000) 0.89
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. Exp Dermatol (2006) 0.88
De novo "pure" partial trisomy (6)(p22.1-->pter) in a chromosome 15 with an enlarged satellite, identified by microdissection. Am J Med Genet (2001) 0.87
Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries. Am J Med Genet (1993) 0.87
Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature. Ann Genet (1999) 0.86
Lethal hypophosphatasia, spur type: case report and fetopathological study. Genet Couns (1998) 0.85
Holoprosencephaly: the Maastricht experience. Genet Couns (2001) 0.85
Subfertile men with constitutive chromosome abnormalities do not necessarily refrain from intracytoplasmic sperm injection treatment: a follow-up study on 75 Dutch patients. Hum Reprod (1999) 0.84
Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3). J Med Genet (1998) 0.84
PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. J Med Genet (1996) 0.84
Clinical and chromosome studies of three patients with Smith-Magenis syndrome. Dev Med Child Neurol (1991) 0.83
Familial partial trisomy 8p without dysmorphic features and only mild mental retardation. J Med Genet (1995) 0.83
Strong variable clinical presentation in 3 patients with 7q terminal deletion. Genet Couns (1998) 0.83
Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome? Am J Med Genet (1998) 0.82
Y-chromosomal DNA haplotypes in infertile European males carrying Y-microdeletions. J Endocrinol Invest (2000) 0.82
Partial trisomy and monosomy 8p due to inversion duplication. Clin Genet (1994) 0.81
Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers. Genet Couns (1995) 0.81
Seasonality of pre-ovulatory non-disjunction and the aetiology of Down syndrome. A European collaborative study. Hum Genet (1982) 0.81
Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISH. J Med Genet (1996) 0.80
Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature. Genet Couns (1995) 0.80
Central nervous system abnormalities in oculodentodigital dysplasia. Genet Couns (1996) 0.80
Partial trisomy 15q: report of a patient and literature review. Genet Couns (1997) 0.80
Activity related energy expenditure in children and adolescents with Prader-Willi syndrome. Int J Obes Relat Metab Disord (2000) 0.80
Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes: are they related? Eur J Pediatr (1998) 0.79
Assignment of the human gene for endosarcomeric cytoskeletal M-protein (MYOM2) to 8p23.3. Genomics (1999) 0.79
Application of micro-FISH to delineate deletions. Cytogenet Cell Genet (1996) 0.79
Deletion of the long arm of chromosome 6: two new patients and literature review. Clin Genet (1996) 0.79
Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication. Clin Genet (1994) 0.79
Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32). J Med Genet (1994) 0.79
Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications. Am J Med Genet (2000) 0.78
Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia? J Med Genet (1999) 0.78
Mosaic telomeric (2;14) association in a child with motor delay. Am J Med Genet (2000) 0.77
Assignment of the human gene for smoothelin (SMTN) to chromosome 22q12 by fluorescence in situ hybridization and radiation hybrid mapping. Genomics (1997) 0.77
Paracentric inversion inv(11)(q21q23) in The Netherlands. Hum Genet (1990) 0.77
Assignment of the human gene for the sarcomeric M-band protein myomesin (MYOM1) to 18p11.31-p11.32. Genomics (1998) 0.77
Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization. Am J Med Genet (1998) 0.77
Complex chromosome 9, 20, and 22 rearrangements in acute lymphoblastic leukemia with duplication of BCR and ABL sequences. Cancer Genet Cytogenet (2000) 0.76
Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. Genet Couns (1992) 0.76
Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review. Genet Couns (1996) 0.76
Parental alpha 1-antitrypsin (PI) types and meiotic nondisjunction in the aetiology of Down syndrome. Clin Genet (1981) 0.76
DAZLA: an important candidate gene in male subfertility? J Assist Reprod Genet (2001) 0.75
[Clinical thinking and decision making in practice. A young man in shock]. Ned Tijdschr Geneeskd (1999) 0.75
PCR analysis of Y-chromosome deletions in subfertile men. Lancet (1997) 0.75
Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish. Genet Couns (1999) 0.75
14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies. Genet Couns (2000) 0.75
Congenital camptodactyly associated with the 48,XXYY syndrome. Genet Couns (1998) 0.75
De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH. Am J Med Genet (2001) 0.75
Mild phenotype in interstitial 4p deletion: another patient and review of the literature. Genet Couns (1997) 0.75
Spasticity, mental retardation, macrocephaly and distinct craniofacial appearance: confirmation of a new subtype of complicated spastic paraplegia? Genet Couns (1998) 0.75
[Congenital toxoplasmosis: a clinical illustration]. Ned Tijdschr Geneeskd (1985) 0.75
[Pre-eclampsia in the first half of pregnancy: an unknown problem?]. Ned Tijdschr Geneeskd (1996) 0.75
[Phenylketonuria as a model system for DNA diagnosis of hereditary disorders]. Ned Tijdschr Geneeskd (1990) 0.75
Terminal deletion of long arm of chromosome 4: patient report and literature review. Genet Couns (1993) 0.75
The lethal multiple pterygium syndrome: a nosological approach. Genet Couns (1990) 0.75
A patient with pituitary growth hormone deficiency and May-Hegglin anomaly: a distinct entity? Genet Couns (1994) 0.75
Preaxial polydactyly in the 4p- syndrome. Genet Couns (1998) 0.75
[The parental origin of the extra chromosome 21 in Down's syndrome]. Tijdschr Kindergeneeskd (1983) 0.75
[Faciodigitogenital syndrome (Aarskog's syndrome)]. Ned Tijdschr Geneeskd (1985) 0.75
A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded male patients: the Rekem experience. Genet Couns (1995) 0.75
Down syndrome and religious groups. Lancet (1978) 0.75
Long-term treatment of an infant with nesidioblastosis using a somatostatin analogue. N Engl J Med (1987) 0.75
Clinical follow up of a girl with "mental retardation with pterygia, shortness and distinct facial appearance" (Haspeslagh syndrome) Clin Genet (1995) 0.75
FG syndrome: the trias mental retardation, hypotonia and constipation reviewed. Genet Couns (1995) 0.75
De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism. Genet Couns (2000) 0.75
Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6) J Med Genet (1999) 0.75