A. Krepischi-Santos

发表

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

N. Carter, H. Fiegler, H. Tanke, 2005, Journal of Medical Genetics.

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Fikret Erdogan, Reinhard Ullmann, Wei Chen, 2007, Human mutation.

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient

C. Rosenberg, J. Knijnenburg, A. Krepischi-Santos, 2006, Cytogenetic and Genome Research.

Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome

I. Kerkis, J. Mazzeu, A. Vianna-Morgante, 2007, American journal of medical genetics. Part A.

An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses

J. Vermeesch, M. Passos-Bueno, C. Kim, 2007, American journal of medical genetics. Part A.

Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

J. Mazzeu, A. Vianna-Morgante, C. Lourenço, 2007 .

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Andrew J Lees, Susan Gribble, Rohan de Silva, 2006, Nature Genetics.

Comparison of four genome wide platforms using four overlapping interstitial 2p alterations

J. T. Dunnen, M. Genuardi, E. Lucci-Cordisco, 2007 .

Disclosing the mechanisms of origin of de novo short‐arm duplications of chromosome 9

A. Vianna-Morgante, A. Krepischi-Santos, Ana Cristina V. Krepischi‐Santos, 2003, American journal of medical genetics. Part A.

Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B

A. Vianna-Morgante, J. Carneiro, A. Krepischi-Santos, 2001, British journal of haematology.

Report of a del22q11 in a patient with Mayer‐Rokitansky‐Küster‐Hauser (MRKH) anomaly and exclusion of WNT‐4, RAR‐gamma, and RXR‐alpha as major genes determining MRKH anomaly in a study of 25 affected women

C. Kim, F. Jehee, B. Mendonca, 2006, American journal of medical genetics. Part A.

Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization

N. Carter, S. Gribble, E. Prigmore, 2011, American journal of medical genetics. Part A.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

Genomic imbalances associated with müllerian aplasia

C. Kim, C. Rosenberg, P. Otto, 2007, Journal of Medical Genetics.

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

W. Sloos, M. Passos-Bueno, P. Pearson, 2006, Cytogenetic and Genome Research.

aplasiaimbalances associated with müllerian

C. Kim, C. Rosenberg, P. Otto, 2008 .

aplasia Genomic imbalances associated with mllerian

C. Kim, C. Rosenberg, P. Otto, 2008 .

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

N. Carter, J. Crolla, A. Vianna-Morgante, 2009, Cytogenetic and Genome Research.

normal parents imbalances present both in affected children and of mentally retarded individuals: clinical significance Array-CGH detection of micro rearrangements in

N. Carter, H. Fiegler, W. Sloos, 2006 .

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array‐CGH) defines a new locus (FGS5) for FG syndrome

J. Opitz, M. Passos-Bueno, F. Jehee, 2005, American journal of medical genetics. Part A.

An Xq 22 . 3 Duplication Detected by Comparative Genomic Hybridization Microarray ( Array-CGH ) Defines a New Locus ( FGS 5 ) for FG Syndrome

J. Opitz, M. Passos-Bueno, F. Jehee, 2005 .

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

M. Passos-Bueno, C. Kim, F. Jehee, 2008, Journal of Medical Genetics.