Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features
T Ogata, N Matsuo - Human genetics, 1995 - Springer
Although clinical features in Turner syndrome have been well defined, underlying genetic
factors have not been clarified. To deduce the factors leading to the development of clinical …
factors have not been clarified. To deduce the factors leading to the development of clinical …
SHOX haploinsufficiency and overdosage: impact of gonadal function status
T Ogata, N Matsuo, G Nishimura - Journal of medical genetics, 2001 - jmg.bmj.com
Since its discovery in 1997, knowledge about the SHOX gene has rapidly increased. In this
review, we summarise clinical features and diagnostic and therapeutic implications in SHOX …
review, we summarise clinical features and diagnostic and therapeutic implications in SHOX …
Mammalian ELAV-like neuronal RNA-binding proteins HuB and HuC promote neuronal development in both the central and the peripheral nervous systems
W Akamatsu, HJ Okano, N Osumi… - Proceedings of the …, 1999 - National Acad Sciences
Hu proteins are mammalian embryonic lethal abnormal visual system (ELAV)-like neuronal
RNA-binding proteins that contain three RNA recognition motifs. Although Drosophila ELAV …
RNA-binding proteins that contain three RNA recognition motifs. Although Drosophila ELAV …
Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome
T Kosho, K Muroya, T Nagai, M Fujimoto… - The Journal of …, 1999 - academic.oup.com
We report on clinical features in 14 Japanese patients (4 males and 10 females) with partial
monosomy of the short arm pseudoautosomal region involving SHOX (n= 11) or total …
monosomy of the short arm pseudoautosomal region involving SHOX (n= 11) or total …
Pathogenesis of hypocalcemia in primary hypomagnesemia: normal end-organ responsiveness to parathyroid hormone, impaired parathyroid gland function
SM Suh, AH Tashjian, N Matsuo… - The Journal of …, 1973 - Am Soc Clin Investig
Hypocalcemia is a frequent feature of hypomagnesemia in man and several other species.
To elucidate the cause of this hypocalcemia, we have studied a child with primary …
To elucidate the cause of this hypocalcemia, we have studied a child with primary …
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical …
M Fukami, R Horikawa, T Nagai… - The Journal of …, 2005 - academic.oup.com
We report on molecular and clinical findings in 10 Japanese patients (four males and six
females) from eight families (two pairs of siblings and six isolated cases) with Antley-Bixler …
females) from eight families (two pairs of siblings and six isolated cases) with Antley-Bixler …
Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients
T Ogata, K Muroya, N Matsuo… - The Journal of …, 2001 - academic.oup.com
Although clinical features of Turner syndrome have primarily been explained by the dosage
effects of SHOX (s hort stature ho meobo x-containing gene) and the putative lymphogenic …
effects of SHOX (s hort stature ho meobo x-containing gene) and the putative lymphogenic …
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency
K Ohta, Y Nobukuni, H Mitsubuchi, S Fujimoto… - Biochemical and …, 1992 - Elsevier
Pit-1 is a pituitary-specific transcription factor that binds to and transactivates promoters of
growth hormone and prolactin genes. In three unrelated Japanese children with combined …
growth hormone and prolactin genes. In three unrelated Japanese children with combined …
Results of long-term follow-up after treatment of central precocious puberty with leuprorelin acetate: evaluation of effectiveness of treatment and recovery of gonadal …
T Tanaka, H Niimi, N Matsuo, K Fujieda… - The Journal of …, 2005 - academic.oup.com
We evaluated the effect of leuprorelin treatment on adult height (AH) and followed recovery
of reproductive function in 63 girls and 13 boys with central precocious puberty (CPP). Mean …
of reproductive function in 63 girls and 13 boys with central precocious puberty (CPP). Mean …
Carnitine determination by an enzymatic cycling method with carnitine dehydrogenase
M Takahashi, S Ueda, H Misaki, N Sugiyama… - Clinical …, 1994 - academic.oup.com
We describe a highly sensitive and specific method for determining L-carnitine in serum by
use of carnitine dehydrogenase (EC 1.1. 1.108). The method involves a new enzymatic …
use of carnitine dehydrogenase (EC 1.1. 1.108). The method involves a new enzymatic …