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Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome

American journal of medical genetics. Part A, 2019-11, Vol.179 (11), p.2170-2177

2019

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

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.938-945

2017

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A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

American journal of human genetics, 2014-01, Vol.94 (1), p.120-128

2014

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Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries

American journal of medical genetics. Part A, 2024-06, p.e63802

2024

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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Human molecular genetics, 2013-04, Vol.22 (8), p.1654-1662

2013

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Mandibulofacial dysostosis Bauru type: Refining the phenotype

American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1747-1753

2017

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Complexity of the 5' Untranslated Region of EIF4A3 , a Critical Factor for Craniofacial and Neural Development

Frontiers in genetics, 2018-04, Vol.9, p.149-149

2018

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A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects

Bone (New York, N.Y.), 2021-12, Vol.153, p.116152-116152, Article 116152

2021

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EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome

Human molecular genetics, 2017-06, Vol.26 (12), p.2177-2191

2017

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Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

The journal of clinical endocrinology and metabolism, 2020-05, Vol.105 (5), p.1538-1551

2020

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Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome

Clinical dysmorphology, 2023-01, Vol.32 (1), p.21-24

2023

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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Human molecular genetics, 2013-04, Vol.22 (8), p.1654-1662

2013

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

European journal of human genetics : EJHG, 2015-04, Vol.23 (4), p.481-485

2015

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

Molecular syndromology, 2016-11, Vol.7 (6), p.344-348

2016

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Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome

American journal of medical genetics. Part A, 2019, Vol.179 (11), p.2170-2177

2019

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Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

American journal of human genetics, 2013-12, Vol.93 (6), p.1118-1125

2013

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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

American journal of human genetics, 2012-02, Vol.90 (2), p.369-377

2012

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Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1850-1853

2014

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Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: When should IRF6 mutational screening be done?

American journal of medical genetics. Part A, 2009-06, Vol.149A (6), p.1319-1322

2009

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Auriculo‐condylar syndrome: Additional patients

American journal of medical genetics, 2002-10, Vol.112 (2), p.209-214

2002

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Auriculo-condylar syndrome: Further evidence for a new disorder

American journal of medical genetics, 1999-09, Vol.86 (2), p.130-133

1999

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Mandibulofacial dysostosis Bauru type syndrome: A new case

American journal of medical genetics, 1999-09, Vol.86 (2), p.199-201

1999

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Multiple congenital anomalies syndrome: Growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients

American journal of medical genetics, 1999-11, Vol.87 (1), p.72-77

1999

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Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome

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

A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Mandibulofacial dysostosis Bauru type: Refining the phenotype

Complexity of the 5' Untranslated Region of EIF4A3 , a Critical Factor for Craniofacial and Neural Development

A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects

EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

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

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

Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: When should IRF6 mutational screening be done?

Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia

Auriculo‐condylar syndrome: Additional patients

Auriculo-condylar syndrome: Further evidence for a new disorder

Mandibulofacial dysostosis Bauru type syndrome: A new case

Multiple congenital anomalies syndrome: Growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients

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