Search filters

List of works by Maria Leine Guion-Almeida

22q11 deletion syndrome and limb anomalies: report on two Brazilian patients

scientific article published on 30 January 2008

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

scientific article

Acrofrontofacionasal dysostosis: Report of the third Brazilian family ⬇️

scientific article published on 01 June 2003

An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases.

scientific article published in October 2015

Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients

scientific article published on June 2007

Atypical facial clefting in a patient with Goltz syndrome

scientific article published on 01 July 2006

Aural atresia and microtia in Kabuki syndrome.

scientific article published in May 2003

Aural atresia, microtia, complex heart defect, and hearing loss syndrome: additional case

scientific article published on 01 February 2003

Auriculo-condylar syndrome: additional patients

scientific article published on 01 October 2002

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

scientific article published on 14 November 2007

Auriculo‐condylar syndrome. Confronting a diagnostic challenge ⬇️

scientific article published on November 21, 2011

Blepharocheilodontic (BCD) syndrome: expanding the phenotype?

scientific article published on 01 September 2003

Cerebro-oculo-nasal syndrome: 13 new Brazilian cases

scientific article published in December 2007

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis

scientific article published on 09 January 2008

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

scientific article published on 26 March 2014

Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases

scientific article

Clinical genetic study of 144 patients with nonsyndromic hearing loss

scientific article published in December 2004

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

scientific article published on 11 April 2012

Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis

scientific article published on 01 August 2010

Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient ⬇️

scientific article published on October 1, 2003

Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion

scientific article published on 24 May 2012

Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs

scientific article published in January 2004

Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients

scientific article published in May 2009

Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?

scientific article published in November 2006

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

scientific article

Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder

scientific article published in January 2008

Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes

scientific article published on 01 June 2009

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation

scientific article published in July 2007

Mandibulofacial dysostosis Bauru type: Refining the phenotype.

scientific article

Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?

scientific article published on 01 July 2010

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

scientific article published on 01 December 2009

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

scientific article

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

scientific article

Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?

scientific article

Nonsyndromic alar clefts: report of five Brazilian patients

scientific article published on 01 December 2009

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

scientific article

Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union.

scientific article

Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature

scientific article published on 7 February 2007

Oral teratoma, dextrocardia, and congenital heart defect: a nonrandom association or serendipity?

scientific article published on 01 April 2008

Pai syndrome: report of seven South American patients

scientific article published on 01 December 2007

Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases

scientific article published on 22 December 2010

Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

Severe midline craniofacial anomalies: overlap with Pai syndrome

scientific article published on 01 July 2009

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome

scientific article published in April 2017

Teebi hypertelorism syndrome: additional cases

scientific article published on 01 March 2003

Terminal osseous dysplasia and pigmentary defects in a Brazilian girl

scientific article published in October 2008

The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological Considerations

scientific article

Unusual nasal duplication in two patients.

scientific article

Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene

scientific article published in July 2008

Paulina is supported by:

About Paulina

Help