C Baccichetti

The ?Cat Eye syndrome?: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter?q11) associated with a characteristic phenotype

Albert Schinzel, Werner Schmid, M. Fraccaro et al. · Human Genetics · 1981 · 206 citations · Full text

Developmental Anomaly, Ocular Disease, Mendelian Disorder +11

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Wendy P. Robinson, John Wagstaff, Fosco Bernasconi et al. · Journal of Medical Genetics · 1993 · 125 citations · Full text

Pws Region Material, Uniparental Disomy, Mendelian Disorder +15

Natural course of subclinical hypothyroidism in Down’s syndrome: Prospective study results and therapeutic considerations

Domenico Rubello, Giovanni Battista Pozzan, Dario Casara et al. · Journal of Endocrinological Investigation · 1995 · 93 citations

Down Syndrome, Thyroid Disease, Thyroid Disorders +6

Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man

Gerd Scherer, W. Schempp, C Baccichetti et al. · Human Genetics · 1989 · 89 citations

Infertility, Genetic Disorder, Genetics +9

A New Case of Trisomy for the Short Arm of No. 9 Chromosome

C Baccichetti, Romano Tenconi · Journal of Medical Genetics · 1973 · 34 citations · Full text

Heat Treatment, Short Arm, New Case +11