L. Ribeiro-Bicudo

发表

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

Siulan Vendramini-Pittoli, R. M. Candido-Souza, R. Quiezi, 2020, Journal of Pediatric Genetics.

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF‐β, hedgehog, and FGF signaling

J. Mullikin, Nisc Comparative Sequencing Program, J. Niederhuber, 2018, Human mutation.

Copy number variations as a risk factor for couples with idiopathic recurrent miscarriage: A systematic review

L. Ribeiro-Bicudo, B. F. Gamba, N. A. Bérgamo, 2022, Human Reproduction Archives.

Cognitive Deficit, Learning Difficulties, Severe Behavioral Abnormalities and Healed Cleft Lip in a Patient with a 1.2-Mb Distal Microduplication at 22q11.2

L. Ribeiro-Bicudo, A. Richieri‐Costa, B. F. Gamba, 2013, Molecular Syndromology.

Quality evaluation of DNA obtained from stored human saliva and its applicability to identification in Forensic Dentistry

L. Ribeiro-Bicudo, R. Silva, Suzana Papile Maciel Carvalho, 2010 .

Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies

L. Ribeiro-Bicudo, A. Richieri‐Costa, S. Costa, 2015, Molecular Genetics and Genomics.

Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses

P. Pearson, L. Ribeiro-Bicudo, A. Vianna-Morgante, 2021, American journal of medical genetics. Part A.

Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

Siulan Vendramini-Pittoli, R. Zechi-Ceide, N. M. Kokitsu-Nakata, 2016, Journal of Pediatric Genetics.

Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

L. Ribeiro-Bicudo, A. Richieri‐Costa, C. Rosenberg, 2015, Molecular Syndromology.

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.

L. Ribeiro-Bicudo, A. Richieri‐Costa, P. Kruszka, 2016, Human molecular genetics.

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

Siulan Vendramini-Pittoli, R. Zechi-Ceide, L. Ribeiro-Bicudo, 2016, Molecular Syndromology.

Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies

L. Ribeiro-Bicudo, A. Richieri‐Costa, C. Rosenberg, 2015, Molecular Genetics and Genomics.

Contents Vol. 7, 2016

M. Mussini, M. Poot, Siulan Vendramini-Pittoli, 2016, Molecular Syndromology.

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly

L. Ribeiro-Bicudo, A. Richieri‐Costa, C. Bertolacini, 2010, Brain and Development.

Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

L. Ribeiro-Bicudo, A. Richieri‐Costa, C. Rosenberg, 2015, Molecular Syndromology.

Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies

R. Quiezi, L. Ribeiro-Bicudo, M. Guion-Almeida, 2012, American journal of medical genetics. Part A.