[HTML][HTML] Reducing delayed detection of isolated cleft palate-related deformity: a call for routine intraoral examination of newborns

R Denadai, LJ Lo - Jornal de Pediatria, 2024 - Elsevier
Objective To provide healthcare professional-friendly practical recommendations for early
detection of cleft palate-related deformities in newborns and offer an overview of managing …

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review

S Grlić, V Gregurović, M Martinić, M Davidović, I Kos… - Children, 2024 - mdpi.com
Introduction: Pediatric cystic kidney disease (CyKD) includes conditions characterized by
renal cysts. Despite extensive research in this field, there are no reliable genetics or other …

[HTML][HTML] Diagnostic gene panel testing in (non)-syndromic patients with cleft lip, alveolus and/or palate in the Netherlands

LF Wurfbain, IL Cox, MF Van Dooren… - Molecular …, 2023 - karger.com
Objectives: Clefts of the lip, alveolus and/or palate (CLA/P) are the most common
craniofacial congenital malformations in humans. These oral clefts can be divided into non …

Concurrent de novo ZFHX4 variant and 16q24. 1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10

M Créton, F Wagener, M Massink… - American Journal of …, 2023 - Wiley Online Library
A girl with a unilateral cleft lip, alveolus and palate, tooth agenesis, and mild dysmorphic
features, without a specific underlying syndrome diagnosis, was genotypically characterized …

Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum

M Atique Tacla, M de Mello Copelli, E Pairet… - European Journal of …, 2023 - nature.com
This study describes genomic findings among individuals with both orofacial clefts (OC) and
microphthalmia/anophthalmia/coloboma (MAC) recorded in the Brazilian Database on …

Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11. 2 deletion syndrome

VL Gil‐da‐Silva‐Lopes, MA Tacla… - American Journal of …, 2020 - Wiley Online Library
This article reports the present situation of Brazilian health care in genetics for Orofacial Cleft
(OFC) and 22q11. 2 Deletions Syndrome (22q11. 2 DS) based on research conducted by …

Molecular investigation in Orofacial Clefts with Microphthalmia-Anophthalmia-Coloboma spectrum

VL Gil-da-Silva-Lopes, M Atique-Tacla, M Copelli… - 2023 - researchsquare.com
Orofacial clefts (OC) are the most common birth defects in humans and approximately 30%
of them form the group of syndromic orofacial clefts (SOCs). Microphthalmia/anophthalmia …

Asociación del polimorfismo rs861020 del gen IRF6 con respecto a labio y paladar fisurado

LF López Paez, VP Roa Santamaria… - 2023 - repository.ucc.edu.co
Introducción: El LPH es una malformación que ocurre entre las sexta y décima semana de
vida intrauterina, se produce interiormente la separación de las cavidades nasal. y bucal …

The Orofacial Cleft Phenome

M Yow - 2021 - search.proquest.com
Aims: To establish the descriptive epidemiology of infants from different ancestries born with
orofacial clefts, and to determine the primary and secondary dental anomalies and maturity …