C. Koiffmann

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Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants

Débora Romeo Bertola, Ana Beatriz Alvarez Perez, C. Kim, 2013, American journal of medical genetics. Part A.

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.

[Hypotonic infants and the Prader-Willi Syndrome]

C. Koiffmann, F. Kok, C. Fridman, 2000, Jornal de pediatria.

Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome.

N. Setian, D. Moretti-Ferreira, C. Koiffmann, 1993, American journal of medical genetics.

PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW

D. Damiani, J. Carneiro, H. Cabral, 2018, Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo.

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.

Angelman syndrome caused by deletion: A genotype–phenotype correlation determined by breakpoint

K. Valente, M. J. Marques-Dias, J. Andrade, 2013, Epilepsy Research.

Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13.

K. Valente, M. J. Marques-Dias, J. Andrade, 2006, Archives of neurology.

Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).

M. Varela, C. Koiffmann, G. M. P. Lopes, 2004, Annales de genetique.

Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation

M. Varela, C. Koiffmann, C. Fridman, 2002 .

Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.

M. Varela, C. Koiffmann, F. Kok, 2000, American journal of medical genetics.

Prader-Willi syndrome: genetic tests and clinical findings.

N. Setian, M. Varela, C. Koiffmann, 2000, Genetic testing.

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.

C. Rosenberg, J. Gurgel-Giannetti, A. Krepischi, 2012, European journal of medical genetics.

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects

P. Otto, M. Varela, C. Koiffmann, 2004, European Journal of Human Genetics.

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene

M. Varela, C. Koiffmann, C. Fridman, 2003, American journal of medical genetics. Part A.

A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome

C. Kim, Tatiana Ferreira de Almeida, D. Bertola, 2012, Clinics.

A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.

C. Kim, D. Bertola, M. Varela, 2006, European journal of medical genetics.

Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns

K. Valente, M. J. Marques-Dias, J. Andrade, 2005, Epilepsy Research.

Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q

R. Nicholls, M. Varela, C. Koiffmann, 1998, Clinical genetics.

Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

J. Rosenfeld, L. Shaffer, Martin Stofanko, 2014, Disease markers.

Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2.

M. Passos-Bueno, L. Alonso, C. Koiffmann, 2002, American journal of medical genetics.

Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion

M. A. de Oliveira, C. Koiffmann, C. I. D. de Castro, 2010, American journal of medical genetics. Part A.

Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q.

A. Vianna-Morgante, C. Koiffmann, A. Wajntal, 1995, American journal of medical genetics.

GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older.

J. Opitz, B. Mendonca, M. Sotto, 1990, American journal of medical genetics.

Macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Zonana syndrome): genetic heterogeneity or autosomal dominant locus with at least two different allelic forms?

D. Moretti-Ferreira, C. Koiffmann, A. Wajntal, 1989, American journal of medical genetics.

Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11.

S. Kihara, C. Koiffmann, A. Wajntal, 1993, American journal of medical genetics.

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

C. Kim, C. Lourenço, P. Otto, 2018, Molecular Cytogenetics.

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes

C. Lourenço, D. Bertola, M. Varela, 2014, Molecular Cytogenetics.

Genetic investigation of syndromic forms of obesity

I. T. da Silva, A. Krepischi, C. Koiffmann, 2022, International Journal of Obesity.

A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review.

C. Rosenberg, I. T. da Silva, A. Krepischi, 2021, Obesity research & clinical practice.

Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity

L. Alonso, C. Koiffmann, C. D’Angelo, 2015, Molecular Syndromology.

Copy Number Variants in Obesity-Related Syndromes: Review and Perspectives on Novel Molecular Approaches

C. Koiffmann, C. D’Angelo, 2012, Journal of obesity.

An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior

F. Jehee, C. Koiffmann, C. D’Angelo, 2007, American journal of medical genetics. Part A.

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements

L. Shaffer, A. Gentles, C. Kim, 2009, Human Genetics.

Genomic imprinting: genetic mechanisms and phenotypic consequences in Prader-Willi and Angelman syndromes

C. Koiffmann, C. Fridman, 2000 .

Inv dup (15): Is the electroclinical phenotype helpful for this challenging clinical diagnosis?

K. Valente, M. Varela, C. Koiffmann, 2006, Clinical Neurophysiology.

The Y Chromosome of the Atelidae Family (Platyrrhini): Study by Chromosome Microdissection

C. Koiffmann, C. Gifalli-Iughetti, 2009, Cytogenetic and Genome Research.

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.

M. Passos-Bueno, C. Kim, A. Vianna-Morgante, 2022, Journal of autism and developmental disorders.

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.

Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins

J. Lupski, R. Gibbs, S. Jhangiani, 2017, American journal of medical genetics. Part A.

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

C. Kim, C. Lourenço, P. Otto, 2018, Molecular Cytogenetics.

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes

C. Kim, C. Lourenço, D. Bertola, 2014, Molecular Cytogenetics.

Two novel pathogenic variants in MED13L: one familial and one isolated case.

C. Rosenberg, D. Bertola, I. T. da Silva, 2021, Journal of intellectual disability research : JIDR.

Research Letter An Inherited Atypical 1 Mb 22q11.2 Deletion Within the DGS/VCFS 3 Mb Region in a Child With Obesity and Aggressive Behavior

F. Jehee, C. Koiffmann, C. D’Angelo, 2007 .

Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance.

C. Koiffmann, A. Wajntal, R. M. Castro, 1988, American journal of medical genetics.

Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome-McKusick 10030): further suggestion of autosomal recessive inheritance.

C. Koiffmann, A. Wajntal, R. M. Castro, 1988 .

Rett syndrome in a boy with a 47,XXY karyotype.

M. Zatz, J. S. Schwartzman, C. Koiffmann, 1999, American journal of human genetics.

Angelman Syndrome: Difficulties in EEG Pattern Recognition and Possible Misinterpretations

K. Valente, M. J. Marques-Dias, J. Andrade, 2003, Epilepsia.

Chromosome aberrations in Sotos syndrome

C. Koiffmann, A. Wajntal, 1991, Clinical genetics.

Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia

C. Kim, D. Bertola, I. Kohl, 2010, American journal of medical genetics. Part A.

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.

C. Kim, J. A. da Paz, D. Bertola, 2006, European journal of medical genetics.

Familial recurrence of geleophysic dysplasia.

C. Koiffmann, A. Wajntal, M. Ursich, 1984, American journal of medical genetics.

Cytochrome B Sequences Show Subdivision between Populations of the Brown Howler Monkey (Alouatta guariba) from Rio de Janeiro and Santa Catarina, Brazil

E. Harris, C. Koiffmann, C. Gifalli-Iughetti, 2005 .

Brief cytogenetic report on maternal translocation t(7;9) (p22:p13): two sibs with duplication 9p and one sib with the balanced translocation.

C. Koiffmann, A. Wajntal, D. H. de Souza, 1985, American journal of medical genetics.

Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation.

C. Koiffmann, A. Wajntal, D. H. de Souza, 1990, Journal of medical genetics.

Human situs determination and chromosome constitution 46,XY,ins(7;8)(q22;q12q24)

C. Koiffmann, A. Wajntal, D. H. de Souza, 1993, American journal of medical genetics.

Phenotypic and behavioral variability within Angelman Syndrome group with UPD

Cintia Fridman, Kette D. Valente, K. Valente, 2002 .

Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome.

C. Koiffmann, C. Fridman, 2000, American journal of medical genetics.

MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.

C. Kim, D. Bertola, L. Albano, 2009, European journal of medical genetics.

Chromosomal phylogeny of Lagothrix, Brachyteles, and Cacajao.

B. Dutrillaux, C. Koiffmann, E. Viegas Péquignot, 1985, Cytogenetics and cell genetics.

Karyotypic studies in Atelinae monkeys

C. Koiffmann, P. H. Saldanha, 1982 .

Cytogenetics of Brazilian monkeys

C. Koiffmann, P. H. Saldanha, 1974 .

Molecular phylogenetic inference of the howler monkey radiation (Primates: Alouatta)

W. A. Silva, A. Carnaval, I. Sampaio, 2020, Primates.

A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction

C. Koiffmann, Í. Ferrari, C. Fridman, 2000, Clinical genetics.

Is Shwachman syndrome (McKusick 26040) a chromosome breakage syndrome?

C. Kim, C. Koiffmann, A. Wajntal, 2005, Human Genetics.

A rare case of trisomy 15pter‐q21.2 due to a de novo marker chromosome

J. Squire, M. I. Melaragno, D. Christofolini, 2010, American journal of medical genetics. Part A.

Synteny of human chromosomes 14 and 15 in the platyrrhines (Primates, Platyrrhini)

C. Koiffmann, C. Gifalli-Iughetti, 2009, Genetics and molecular biology.

Infantile autism and 47,XYY karyotype.

C. Kim, D. Bertola, C. Koiffmann, 2009, Arquivos de neuro-psiquiatria.

Cytogenetic evidence of involvement of chromosome regions 15q12 and 12q15 in conditions with associated overgrowth.

D. Moretti-Ferreira, C. Koiffmann, A. Wajntal, 1993, DNA and Cell Biology.

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

Ryan E. Mills, M. Zatz, P. Pearson, 2013, European Journal of Human Genetics.

investigation of 1 p 36 deletion in 41 patients with delayed psychomotor development , hypotonia , obesity and / or hyperphagia , learning disabilities and behavioral problems

C. Kim, D. Bertola, M. Varela, 2006 .

Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome-McKusick 10030): further suggestion of autosomal recessive inheritance.

V. Sybert, C. Koiffmann, A. Wajntal, 1988 .

Impact of molecular mechanisms, including deletion size, on Prader–Willi syndrome phenotype: study of 75 patients

N. Setian, M. Varela, C. Koiffmann, 2004, Clinical Genetics.

PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW

D. Damiani, J. Carneiro, R. Franco, 2018, Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo.

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes

C. Kim, C. Lourenço, D. Bertola, 2014, Molecular Cytogenetics.