Lea Puhakka

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

Katariina Kainulainen, Leena Karttunen, Lea Puhakka et al. · Nature Genetics · 1994 · 260 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

Irma Järvelä, Johanna Schleutker, Leena Haataja et al. · Genomics · 1991 · 133 citations

Short Arm, Molecular Neuroscience, Developmental Biology +11

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.

Katariina Kainulainen, Lynn Y. Sakai, Anne H. Child et al. · Proceedings of the National Academy of Sciences · 1992 · 116 citations

Genetics, Pathology, Molecular Genetics +17

A Novel Mutation of the Fibrillin Gene Causing Ectopia Lentis

Lasse Lönnqvist, A. H. Child, Katariina Kainulainen et al. · Genomics · 1994 · 92 citations

Novel Mutation, Genetics, Pathogenesis +2

Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B

Matti Hero, Johanna Tommiska, Kirsi Vaaralahti et al. · Fertility and Sterility · 2012 · 53 citations · Full text

Infertility, Growth Hormone, Human Growth +9