Results 41 to 50 of about 138,852 (315)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Oro-facial clefts at a tertiary level hospital of eastern Nepal: A retrospective insight

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2022
Introduction: There are only a few centers providing care to orofacial cleft patients across Nepal. However, no adequate data have been reported regarding the epidemiology, pattern, and association of cleft in children from eastern Nepal.
Mehul R Jaisani, Ashok Dongol, Pradeep Acharya, Anjani Kumar Yadav, Alok Sagtani, Leeza Pradhan, Pallavi Vyas Jaisani, Sean Laverick   +7 more
doaj   +1 more source

O Cuidado com a saúde bucal de crianças com fissura labiopalatal sob o olhar e a vivência materna: um estudo exploratório [PDF]

, 2012
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Programa de Pós-Graduação em Odontologia, Florianópolis, 2010.A fissura labiopalatal é uma má formação congênita que acarreta para a pessoa uma série de ...
Silva, Cintia Magali da
core  

Tongue palate contact during bilabials in normal speech

, 2007
Objective: Previous research using electropalatography (EPG) identified a compensatory articulation called bilabial-lingual double articulations. These double articulations were produced for bilabials by some speakers with cleft palate and involved ...
Lee, Alice, Gibbon, Fiona, Yuen, Ivan
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Prevalence of Dental Anomalies in Patients With Nonsyndromic Cleft Lip and/or Palate in a Brazilian Population

, 2015
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Objective: Many studies have demonstrated a high frequency of dental anomalies in patients with cleft lip and/or palate.
de Barros, LM, Martelli, H, Coletta, RD, Paranaiba, LMR, Swerts, MSO, Quintino, RP   +5 more
core   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Dynamic changes in nasal symmetry after presurgical nasoalveolar molding in infants with complete unilateral cleft lip and palate

African Journal of Paediatric Surgery, 2020
Background: Presurgical nasoalveolar molding (PNAM) technique gave a new perspective to presurgical infant orthopedics. Nasal reconstruction presents a challenge for the plastic surgeons in case of patients with unilateral cleft lip and palate (UCLP ...
Seema Thakur, Anjali Singh, Vijay Kumar Diwana, Alka Rani, Narbir Singh Thakur   +4 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Analysis of dental arch relationships in Swedish unilateral cleft lip and palate subjects: 20-year longitudinal consecutive series treated with delayed hard palate closure

, 2006
OBJECTIVE: To evaluate the dental arch relationships for a consecutive series from Goteborg, Sweden, who had delayed hard palate closure. DESIGN: Retrospective study. SETTING: Sahlgrenska University Hospital, Goteborg, Sweden.
Elander, A, Lilja, J, Mars, M, Enocson, L, Friede, Hans,, Hagberg, Catharina,, Worrell, Emma, Worrell, E, Elander, Anna,, Batra, P, Lilja, Jan,, Friede, H, Mars, Michael, Hagberg, C,, Batra, Puneet, Enocson, Lars   +15 more
core   +1 more source