Literature DB >> 11196113

Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome.

B K Goodman1, J Rutberg, W W Lin, A E Pulver, G H Thomas.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2000        PMID： 11196113     DOI： 10.1023/a:1026773005303

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  2 in total

1.  A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia.

Authors:  H D Campbell; G C Webb; I G Young
Journal:  Hum Genet       Date:  1997-11       Impact factor: 4.132

2.  Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene.

Authors:  J Jaeken; N Goemans; J P Fryns; I François; F de Zegher
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982
  2 in total
  27 in total

1.  A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility.

Authors:  Aravinda Chakravarti
Journal:  Proc Natl Acad Sci U S A       Date:  2002-04-16       Impact factor: 11.205

2.  PRODH rs450046 and proline x COMT Val¹⁵⁸ Met interaction effects on intelligence and startle in adults with 22q11 deletion syndrome.

Authors:  Mariken B de Koning; Esther D A van Duin; Erik Boot; Oswald J N Bloemen; Jaap A Bakker; Kathryn M Abel; Thérèse A M J van Amelsvoort
Journal:  Psychopharmacology (Berl)       Date:  2015-06-12       Impact factor: 4.530

Review 3.  22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.

Authors:  Maria Karayiorgou; Tony J Simon; Joseph A Gogos
Journal:  Nat Rev Neurosci       Date:  2010-06       Impact factor: 34.870

4.  Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.

Authors:  Marie-Laure Vuillaume; Dévina C Ung; Valerie E Vancollie; Tjitske Kleefstra; Binnaz Yalcin; Frédéric Laumonnier; Annick Toutain; Médéric Jeanne; Christel Wagner; Stephan C Collins; Sandrine Vonwill; Damien Haye; Nora Chelloug; Rolph Pfundt; Joost Kummeling; Marie-Pierre Moizard; Sylviane Marouillat
Journal:  Hum Genet       Date:  2021-01-08       Impact factor: 4.132

5.  Vitamin D deficiency, behavioral atypicality, anxiety and depression in children with chromosome 22q11.2 deletion syndrome.

Authors:  L Kelley; A F P Sanders; E A Beaton
Journal:  J Dev Orig Health Dis       Date:  2016-12       Impact factor: 2.401

6.  Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome.

Authors:  Catherine L Clelland; Laura L Read; Amanda N Baraldi; Corinne P Bart; Carrie A Pappas; Laura J Panek; Robert H Nadrich; James D Clelland
Journal:  Schizophr Res       Date:  2011-06-08       Impact factor: 4.939

Review 7.  Converging levels of analysis on a genomic hotspot for psychosis: insights from 22q11.2 deletion syndrome.

Authors:  Matthew J Schreiner; Maria T Lazaro; Maria Jalbrzikowski; Carrie E Bearden
Journal:  Neuropharmacology       Date:  2012-10-23       Impact factor: 5.250

8.  Proline affects brain function in 22q11DS children with the low activity COMT 158 allele.

Authors:  Jacob A S Vorstman; Bruce I Turetsky; Monique E J Sijmens-Morcus; Monique G de Sain; Bert Dorland; Mirjam Sprong; Eric F Rappaport; Frits A Beemer; Beverly S Emanuel; René S Kahn; Herman van Engeland; Chantal Kemner
Journal:  Neuropsychopharmacology       Date:  2008-09-03       Impact factor: 7.853

Review 9.  22q11.2 deletion syndrome.

Authors:  Donna M McDonald-McGinn; Kathleen E Sullivan; Bruno Marino; Nicole Philip; Ann Swillen; Jacob A S Vorstman; Elaine H Zackai; Beverly S Emanuel; Joris R Vermeesch; Bernice E Morrow; Peter J Scambler; Anne S Bassett
Journal:  Nat Rev Dis Primers       Date:  2015-11-19       Impact factor: 52.329

10.  Peripheral amino Acid levels in schizophrenia and antipsychotic treatment.

Authors:  Vincenzo De Luca; Emanuela Viggiano; Giovanni Messina; Alessandro Viggiano; Carol Borlido; Andrea Viggiano; Marcellino Monda
Journal:  Psychiatry Investig       Date:  2008-12-31       Impact factor: 2.505
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.