Published in Eur J Pediatr on July 01, 1982
Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family. J Med Genet (1995) 0.84
Oto-onycho-peroneal syndrome: confirmation of a syndrome. J Med Genet (1998) 0.75
Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature. Indian J Hum Genet (2014) 0.75
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet (1988) 2.47
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet (1997) 1.60
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. Hum Genet (1996) 1.43
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child (1971) 1.38
Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34). Hum Genet (1982) 1.37
First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Am J Med Genet (2001) 1.34
Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+). Humangenetik (1973) 1.30
[Polysyndactyly, short limbs, and genital malformations--a new syndrome?]. Z Kinderheilkd (1971) 1.22
A novel 22q11.2 microdeletion in DiGeorge syndrome. Am J Hum Genet (1999) 1.20
A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH). Clin Genet (1992) 1.14
Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21. Clin Genet (1977) 1.08
[The oro-facial-digital syndrome. Symptoms and prognosis]. Z Kinderheilkd (1972) 1.08
Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case. Am J Med Genet (1983) 1.06
[Observations on the problem of sex-linked recessive mental retardation]. Arch Psychiatr Nervenkr (1970) (1969) 1.06
Atelosteogenesis. Am J Med Genet (1982) 1.04
[Reciprocal translocation between a chromosome number 21 (G1) and a chromosome of the group C(C6)]. Helv Paediatr Acta (1967) 1.02
A family with Huntington disease and reciprocal translocation 4;5. Am J Hum Genet (1986) 1.02
An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Hum Genet (1987) 1.02
Isochromosome 18p results from maternal meiosis II nondisjunction. Eur J Hum Genet (1996) 1.00
A familial mutation in the testis-determining gene SRY shared by both sexes. Hum Genet (1992) 1.00
Beta-glucuronidase deficiency in a girl with unusual clinical features. Eur J Pediatr (1977) 0.99
Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome. Arch Ophthalmol (1999) 0.98
[Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)]. Klin Padiatr (1973) 0.98
A comparative ZOO-FISH analysis in bats elucidates the phylogenetic relationships between Megachiroptera and five microchiropteran families. Chromosome Res (2002) 0.97
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. Am J Hum Genet (1998) 0.96
[The popliteal pterygium syndrome. A dominant autosomal malformation syndrome]. Z Kinderheilkd (1970) 0.96
[Reduplication behavior of chromosomes of group D (13-15) and identification of the extra-chromosome in trisomy D]. Klin Wochenschr (1965) 0.95
Interstitial deletion of a chromosome 7 (q11.2q22.1) in a child with splithand/splitfoot malformation. Ann Genet (1984) 0.95
[Chromosome anomalies caused by surplus (trisomies) and age of the mother]. Dtsch Med Wochenschr (1966) 0.95
A syndrome of short stature, amimic facies, enamel hypoplasia, slowly progressive stiffness of the joints and high-pitched voice in two siblings. J Pediatr (1977) 0.92
Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22). Clin Genet (1980) 0.92
Studies of malformation syndromes of man XXIV B: the Dubowitz syndrome. Further observations. Z Kinderheilkd (1973) 0.92
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man. Am J Med Genet (1998) 0.91
Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch. Am J Med Genet (1998) 0.91
Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis. Hum Genet (1998) 0.90
Growth of heterokaryotic monozygotic twins discordant for Ullrich-Turner syndrome during the first years of life. Am J Med Genet A (2004) 0.90
Congenital universal alopecia, mental deficiency, and microcephaly in two sibs. J Med Genet (1982) 0.89
Terminal deletion of the long arm of chromosome 1 in a malformed newborn. Hum Genet (1978) 0.89
[Freeman-Sheldon syndrome. Three new observations]. Z Kinderheilkd (1972) 0.88
The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52. Genomics (1992) 0.88
[The XXXXY syndrome. Report of 7 new cases and review of the literature (author's transl)]. Z Kinderheilkd (1973) 0.88
Interstitial deletion of 16(q13q22) in a newborn resulting from a paternal insertional translocation. Ann Genet (1991) 0.88
De novo translocation t(Yq-; 15p+) in a malformed boy. Humangenetik (1973) 0.87
Nosology of congenital non-progressive cerebellar ataxia. Report on six cases in three families. Neuropadiatrie (1974) 0.87
Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome". Am J Med Genet (1996) 0.86
[Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance (author's transl)]. Z Kinderheilkd (1973) 0.86
[The clinical manifestations and cytogenetic observations of 7 cases affected by the cri-du-chat syndrome]. Z Kinderheilkd (1968) 0.86
47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22. Hum Genet (1977) 0.85
Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype. Hum Mol Genet (1994) 0.85
Rapid RT-PCR-based protein truncation test in the screening for 5' located mutations of the APC gene. Mol Cell Probes (1998) 0.84
Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation. Hum Genet (1996) 0.84
True hermaphroditism. Helv Paediatr Acta (1974) 0.84
Typical and partial cat eye syndrome: identification of the marker chromosome by FISH. Clin Genet (1992) 0.84
Deletion or triplication of the alpha 3 (VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders. Clin Genet (1996) 0.84
Limb anomalies in chromosomal aberrations. Birth Defects Orig Artic Ser (1977) 0.84
Visualization of human somatic chromosomes by scanning electron microscopy. Nature (1967) 0.83
Tandem duplication (5q13 to 22) in a mentally deficient girl. Hum Genet (1979) 0.83
[Familial translocation 22/Y and partial autosomal trisomy in a young girl]. J Genet Hum (1979) 0.83
Chromosomal abnormalities in ataxia-telangiectasia (Louis Bar's syndrome). Humangenetik (1970) 0.83
Turner's syndrome in the male with chromosomal mosaicism. Humangenetik (1967) 0.82
[Sex-linked-dominant hereditary reduction in number of teeth]. Humangenetik (1967) 0.82
Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son. Cytogenet Cell Genet (1980) 0.82
Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features. J Med Genet (1993) 0.81
[Hypoplasia ponto-neocerebellaris (author's transl)]. J Neurol (1977) 0.81
Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. Hum Mol Genet (1994) 0.81
Present nosology of the Cenani-Lenz type of syndactyly. Clin Genet (1982) 0.81
[Familial cardiomyopathy with congenital webbed neck]. Munch Med Wochenschr (1967) 0.81
[Oculo-dento-digital dysplasia. (Observations in mother and child)]. Klin Monbl Augenheilkd (1968) 0.80
[Autosome dominant vitreoretinal dystrophy with skeletal dysplasia in one generation]. Klin Monbl Augenheilkd (1991) 0.80
[Ulno-fibular dysplasia. An autosome-dominant hereditary micromesomelia resembling the Nievergelt syndrome]. Fortschr Geb Rontgenstr Nuklearmed (1967) 0.80
Subdivision of the human Y chromosome. Humangenetik (1974) 0.80
Partial trisomy 15q1. Hum Genet (1976) 0.80
X-linked ocular albinism. Characteristic pattern of affection in female carriers. Ophthalmic Paediatr Genet (1990) 0.80
Cytogenetic studies in families with two 47, +21-siblings. J Genet Hum (1972) 0.80
Multiple minute marker chromosomes derived from Y identified by FISH in an intersexual infant. Hum Genet (1992) 0.80
[Deletion of the short arms of chromosome No. 18]. Humangenetik (1966) 0.80
Tetraphocomelia and neonatal amegakaryocytic thrombocytopenia. Humangenetik (1973) 0.80
[New documents of delineation of a syndrome of the deletion of the short arm of one chromosome no 4]. Z Kinderheilkd (1968) 0.80
[The Schwartz-Jampel syndrome (myotonia chondrodystrophica)]. Helv Paediatr Acta (1977) 0.80
[Symptomatology of the ring chromosomes of the D group. (2 new observations of type 13r)]. Arch Kinderheilkd (1970) 0.80
[Balanced translocation t(15q-;16p+) as cause of habitual abortions]. Geburtshilfe Frauenheilkd (1973) 0.79
Evidence that activities of coagulation factors VII and X are linked to chromosome 13 (q34). Hum Hered (1984) 0.79
[Dermatoglyphics in Turner's syndrome]. Acta Genet Med Gemellol (Roma) (1968) 0.79
RNA-based mutation screening in German families with Sjögren-Larsson syndrome. Eur J Hum Genet (2000) 0.78
[Is there a syndrome of Ullrich and Feichtiger?(Author's transl)]. Klin Padiatr (1975) 0.78
[Observations on the Prune-Belly syndrome]. Z Kinderheilkd (1975) 0.78
Comments on Schwaibold's "Sirenomelia and Anencephaly in One of Dizygotic Twins". Teratology (1988) 0.78
Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency. Eur J Pediatr (1990) 0.78
[The distribution of heterochromatin in human metaphase chromosomes]. Humangenetik (1972) 0.78
46,XX/46,XX,r(15) mosaiciam: report of a case. J Med Genet (1977) 0.78
[The phenotype of the trisomy of the short arm of chromosome no. 4. (a new case with t (4p; 11q) (author's transl)]. Klin Padiatr (1976) 0.78
[A solitary central maxillary incisor and holoprosencephaly in siblings]. Dtsch Zahnarztl Z (1990) 0.77
[Malformation syndrome in autosomal deficiency (D2-G1)]. Z Kinderheilkd (1967) 0.77
Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex. Prenat Diagn (2000) 0.77
[Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families]. Nervenarzt (2005) 0.77
Correlation between testicular tissue and H-Y phenotype in intersex patients. Clin Genet (1983) 0.77
Prenatal diagnosis of trisomy 9 mosaicism possibly limited to fetal membranes. Prenat Diagn (1985) 0.77
Combination of silver and fluorescent staining for metaphase chromosomes. Am J Hum Genet (1978) 0.76
Centromeric alphoid DNA heteromorphisms of chromosome 22 revealed by FISH-technique. Clin Genet (1998) 0.76