✦ LIBER ✦

Isolated hypospadias is not associated with signs of midline closure defects

✍ Scribed by M�hes, K�roly

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 10 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980113)75:2<190::aid-ajmg13>3.0.co;2-k

No coin nor oath required. For personal study only.

✦ Synopsis

Ten mild signs of midline closure defect and three anthropometric parameters characterizing the distance of paired organs ("hypertelorism") were investigated in 35 boys with isolated hypospadias and in 70 control children admitted for acute infections. No significant differences between the two groups were obtained. The findings suggest that isolated, nonsyndromic hypospadias is not associated with latent midline closure anomalies.

📜 SIMILAR VOLUMES

Homozygous alpha-thalassemia associated

Homozygous alpha-thalassemia associated with hypospadias in three survivors

✍ Fung, Tak Yuen; Kin, Lau Tze; Kong, Li Chi; Keung, Li Chi 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 1 views

We report three cases of homozygous ␣-thalassemia (␣TH) who survived beyond the neonatal period, all with hypospadias. A review of literature identified two additional male cases of homozygous ␣TH who survived, and both had hypospadias. The simultaneous occurrence of the two conditions seems beyond

Nonsyndromic cleft lip and palate is not

Nonsyndromic cleft lip and palate is not associated with cancer or other birth defects

✍ Steinwachs, Ellen F.; Amos, Chris; Johnston, Dennis; Mulliken, John; Stal, Samue 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 1 views

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is one of the most common human malformations with an average prevalence of 1 in 1,000 live births. The cause(s) of NSCLP remain unclear as the relative roles of genes, of the environment, and/or of chance alone are unknown. The purpose of

Dopamine receptorD4 gene is not associat

Dopamine receptorD4 gene is not associated with major psychoses

✍ Serretti, Alessandro; Lilli, Roberta; Bella, Daniela Di; Bertelli, Sara; Nobile, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 1 views

We previously reported an association between dopamine receptor D4 (DRD4) gene exon 1 variants and delusional disorder. The aim of this investigation was to study the DRD4 gene exon 1 and 3 variants in schizophrenia, delusional, bipolar, and unipolar disorders. We studied 651 inpatients affected by

Serotonin-2A receptor gene is not associ

Serotonin-2A receptor gene is not associated with symptomatology of schizophrenia

✍ Serretti, Alessandro; Cusin, Cristina; Lorenzi, Cristina; Lattuada, Enrico; Lill 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 1 views

The serotonin receptor type 2A (5-HT2A) is a primary candidate for involvement in major psychoses. Polymorphisms within the 5-HT2A gene have recently been reported to be associated with a variety of psychopathological conditions. In the present study, we investigated the potential influence of the T

Anticipation is not associated with CAG

Anticipation is not associated with CAG repeat expansion in parent-offspring pairs of patients affected with schizophrenia

✍ Martorell, Lourdes; Pujana, Miguel A.; Valero, Joaqu�n; Joven, Jorge; Volpini, V 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 2 views

With the rationale that a disease that presents with anticipation could be associated with expansion of trinucleotide repeats, we selected parent-offspring pairs of schizophrenia patients with earlier age at onset in the filial generation to measure the expansion of CAG repeats using the repeat expa

Jagged1 mutations in patients ascertaine

Jagged1 mutations in patients ascertained with isolated congenital heart defects

✍ Krantz, Ian D.; Smith, Rosemarie; Colliton, Ray P.; Tinkel, Hilary; Zackai, Elai 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 2 views

Mutations in Jagged1 cause Alagille syndrome (AGS), a pleiotropic disorder with involvement of the liver, heart, skeleton, eyes, and facial structures. Cardiac defects are seen in more than 95% of AGS patients. Most commonly these are right-sided defects ranging from mild peripheral pulmonic stenosi