Published in Humangenetik on January 01, 1971
Deletion 14q and pericentric inversion 14. J Med Genet (1978) 1.30
Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs. J Med Genet (1975) 1.26
Retinoblastoma and D-chromosome deletions. Am J Hum Genet (1973) 1.18
D13 ring chromosome syndrome. Arch Dis Child (1976) 0.92
Craniosynostosis and Craniofacial Anomalies. West J Med (1980) 0.75
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet (1995) 1.65
Maternal uniparental disomy 7--review and further delineation of the phenotype. Eur J Pediatr (2000) 1.56
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet (2008) 1.56
The Wolf-Hirschhorn syndrome. I. Genetics. Clin Genet (1980) 1.42
Partial monosomies 18. Review of cytogenetical and phenotypical variants. Humangenetik (1972) 1.14
Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat. Hum Genet (1979) 1.06
Meckel syndrome in different populations. Am J Med Genet (1984) 1.05
Isochromosome 18p results from maternal meiosis II nondisjunction. Eur J Hum Genet (1996) 1.00
Atrioventricular septal defects: possible etiologic differences between complete and partial defects. Teratology (2001) 0.99
The pathological anatomy of the Smith-Lemli-Opitz syndrome. Clin Genet (1975) 0.99
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity. Am J Med Genet (1979) 0.99
Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome. Clin Genet (1984) 0.98
Further delineation of the branchio-oculo-facial syndrome. Am J Med Genet (1995) 0.97
Genetics of the +p9 syndrome. Hum Genet (1976) 0.94
Partial trisomy 10p in two generations. Hum Genet (1978) 0.90
Difficulties in classification of the short rib-polydactyly syndromes. Eur J Pediatr (1980) 0.89
11q;22q translocation: third case of imbalance not due to 3:1 nondisjunction in first meiosis. Am J Med Genet (1992) 0.88
De novo dup p/del q or dup q/del p rearranged chromosomes: review of 104 cases of a distinct chromosomal mutation. Cytogenet Genome Res (2013) 0.88
Further evidence for the autosomal-recessive inheritance of the COFS syndrome. Clin Genet (1976) 0.87
Further studies on the genetic heterogeneity of cebocephaly. J Med Genet (1976) 0.87
The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity. Virchows Arch A Pathol Anat Histopathol (1984) 0.87
Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome. Am J Med Genet (1979) 0.87
Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. Eur J Pediatr (1995) 0.86
Dubowitz syndrome: possible evidence for a clinical subtype. Am J Med Genet (1990) 0.86
Atypical case of Aarskog syndrome. J Med Genet (1992) 0.83
Interrupted aortic arch: an epidemiologic study. Teratology (2000) 0.82
von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies. Am J Med Genet (1994) 0.81
The Wolf-Hirschhorn syndrome. II. Pathologic anatomy. Clin Genet (1980) 0.80
Pulmonary hypoplasia, multiple ankyloses, and camptodactyly: one syndrome or some related forms? Helv Paediatr Acta (1978) 0.80
New cytogenetic variant of Orbeli's syndrome (46,XY-45,XY,-D-46,XY,Dq+). Humangenetik (1973) 0.79
Reciprocal chromosome translocations involving short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes after meiotic malsegregation 2:2. Adv Med Sci (2009) 0.78
"Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation. J Med Genet (1996) 0.78
Partial trisomy 11q as the result of sporadic translocation. Hum Genet (1979) 0.78
Distal trisomy 14q. J Med Genet (1987) 0.78
The XK-aprosencephaly syndrome. Am J Med Genet (1980) 0.78
No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation. Clin Genet (2000) 0.78
The malformations of the urinary system in autosomal disorders. Virchows Arch A Pathol Anat Histol (1975) 0.77
Neural tube defects in sibs of children with tracheo-oesophageal dysraphism. J Med Genet (1984) 0.75
Two simultaneous terminal deletions in the same patient: a one- vs two-hit origin. Clin Genet (1993) 0.75
Pallister-Hall and McKusick-Kaufmann syndromes. J Med Genet (1995) 0.75
On the nosology of the "Schinzel-phocomelia" and "Al-Awadi/Raas-Rothschield" syndromes. Am J Med Genet (1993) 0.75
CHOANAL ATRESIA AND HIRSCHSPRUNG'S DISEASE ARE "LEGITIMATE" TRAITS OF DISTAL TRISOMY 4q. Genet Couns (2015) 0.75
Phenotypic mapping and clinical ideology. Am J Med Genet (1995) 0.75
Atresia, stenosis and duplication of the gastro-intestinal tract: consideration of their origin. Acta Morphol Hung (1984) 0.75
CYCLOPIA AND OTHER DEFECTS IN A FETUS WITH UNIQUE CHROMOSOMAL REARRANGEMENT. Genet Couns (2015) 0.75
Association of amelia and anal atresia is separate from VACTERL association. Clin Dysmorphol (2000) 0.75
[Genetic risk in cases of reciprocal translocation (author's transl)]. J Genet Hum (1978) 0.75
Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family. Am J Med Genet (1996) 0.75
Trisomy for the distal part of the short arm of chromosome 3. Helv Paediatr Acta (1986) 0.75
Phenotypic spectrum of tetrasomy 12p and prenatal counseling: potential underestimation of severity. Clin Genet (1998) 0.75
Partial trisomy 5q and partial monosomy 5q within the same family. Clin Genet (1985) 0.75
Ectrodactyly and tetralogy of Fallot in a fetus with del(6)(q21q23). Genet Couns (2014) 0.75
Familial omphalocele and recurrence risk. Am J Med Genet (1984) 0.75
Down's syndrome with 45 chromosomes. Hum Genet (1979) 0.75
Trisomy 20p: case report and genetic review. J Genet Hum (1985) 0.75
Maternal transmission of a ring chromosome 15. Genet Couns (2003) 0.75