Editorial

Ih, Page; Hp, Dustan; Bumpus, F. M.

doi:10.1161/01.cir.32.4.513

Cited by 11 publications

(1 citation statement)

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“…The recent intensified interest in measurement of plasma renin concentration (Page et al, 1965) exist which affect the rate of formation and concentration of angiotensin II in plasma. It was observed that a constant amount of renin added to human plasma samples, treated with EDTA and diisopropylfluorophosphate to eliminate angiotensinase activity, generated varying amounts of angiotensin during 4 hr of incubation (Pickens et al, 1965).…”

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confidence: 99%

Isolation of a Phospholipid Renin Inhibitor from Kidney^*

Sen¹,

Rr²,

Bumpus³

1967

Biochemistry

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mentioning

confidence: 99%

Isolation of a Phospholipid Renin Inhibitor from Kidney^*

Sen¹,

Rr²,

Bumpus³

1967

Biochemistry

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Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome

et al. 1997

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We report on two sets of monozygotic (MZ) twins with Williams syndrome (WS), following the 6 pairs already reported in the literature. We have confirmed monozygosity of both pairs of twins by DNA microsatellite analysis and the clinical diagnosis by fluorescence in situ hybridization using a WS-specific probe. Analysis of the concordance of different clinical signs between members of each pair of twins benefitted from a lengthy clinical follow-up, from 24 months to 7 years in one pair, and from the age of 15 years with reevaluation after 2 years in the other pair. Most clinical signs were concordant in the twins of each pair, with differences present at younger ages, mainly minor facial anomalies, being attenuated with time. Developmental delay was substantially concordant, but the degree differed slightly between twins in each pair. Inguinal hernia was present in a single twin in pair 1. Facial anomalies and other signs attributable to connective tissue abnormalities were also displayed by only one twin in both sets, suggesting that the WS genotype has only a predisposing role in the development of these signs.

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Familial Williams-Beuren syndrome showing varying clinical expression

et al. 2001

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Williams-Beuren syndrome (WBS) is a contiguous gene syndrome that occurs mainly sporadically, with an estimated frequency of 1:13,700 to 1:25,000 [Grimm and Wesselhoeft, 1980; Martin et al., 1984; Udwin, 1990]. The cases of monozygotic twins concordant for WBS and dizygotic twins discordant for the syndrome have been reported. In addition, a few familial cases have been described since 1993. The clinical diagnosis has been supported by molecular genetic findings in only two patients, however. We herein report on two families in which the WBS was inherited in girls from their mothers. All four patients showed the typical hemizygous deletion at 7q11.23 [46,XX, ish,del(7)(q11.23q11.23) (ELN/LIMK1/D7S-613x1, D7S486/D7S522x2)], but the clinical picture was strikingly variable within and between families.

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Editorial

Cited by 11 publications

References 0 publications

Isolation of a Phospholipid Renin Inhibitor from Kidney^*

Isolation of a Phospholipid Renin Inhibitor from Kidney^*

Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome

Familial Williams-Beuren syndrome showing varying clinical expression

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Editorial

Cited by 11 publications

References 0 publications

Isolation of a Phospholipid Renin Inhibitor from Kidney*

Isolation of a Phospholipid Renin Inhibitor from Kidney*

Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome

Familial Williams-Beuren syndrome showing varying clinical expression

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Product

Resources

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Isolation of a Phospholipid Renin Inhibitor from Kidney^*

Isolation of a Phospholipid Renin Inhibitor from Kidney^*