Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature
B Vona, I Nanda, C Neuner, J Schröder… - BMC medical …, 2014 - Springer
Background Terminal deletions of chromosome 4q are associated with a broad spectrum of
phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of …
phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of …
[HTML][HTML] Estudio clínico-epidemiológico en niños con labio paladar hendido en un hospital de segundo nivel
A Pons-Bonals, L Pons-Bonals… - Boletín Médico del …, 2017 - Elsevier
Introducción El padecimiento de labio paladar hendido es una de las alteraciones
congénitas más comunes que afecta las estructuras de la cara. El objetivo de este trabajo …
congénitas más comunes que afecta las estructuras de la cara. El objetivo de este trabajo …
Review of statistical methodologies for the detection of parent-of-origin effects in family trio genome-wide association data with binary disease traits
S Connolly, EA Heron - Briefings in Bioinformatics, 2015 - academic.oup.com
The detection of parent-of-origin effects aims to identify whether the functionality of alleles,
and in turn associated phenotypic traits, depends on the parental origin of the alleles …
and in turn associated phenotypic traits, depends on the parental origin of the alleles …
[图书][B] Uniparental disomy (UPD) in clinical genetics: A guide for clinicians and patients
T Liehr - 2014 - Springer
Uniparental disomy (UPD) is a topic, which normally is considered to be something
molecular genetics has to take care of exclusively. As UPD is characterized by microsatellite …
molecular genetics has to take care of exclusively. As UPD is characterized by microsatellite …
Identification of copy neutral loss of heterozygosity on chromosomes 1p, 1q, and 6p among nonsyndromic cleft lip and/or without cleft palate with hypodontia
Background Nonsyndromic cleft lip and/or without cleft palate (NSCL/P) with or without
hypodontia is a common developmental aberration in humans and animals. This study …
hypodontia is a common developmental aberration in humans and animals. This study …
Clinical-epidemiological study in children with cleft lip palate in a secondary-level hospital
A Pons-Bonals, L Pons-Bonals… - Boletín médico del …, 2017 - scielo.org.mx
Resumen PONS-BONALS, Alicia; PONS-BONALS, Leticia; HIDALGO-MARTINEZ, Sandra
Margarita y SOSA-FERREYRA, Carlos Francisco. Clinical-epidemiological study in children …
Margarita y SOSA-FERREYRA, Carlos Francisco. Clinical-epidemiological study in children …
Identification of a novel mutation of Platelet-Derived Growth Factor-C (PDGFC) gene in a girl with Non-Syndromic cleft lip and palate
M Rahnama, T Movahedi, A Eslahi, N Kaseb-Mojaver… - Gene, 2024 - Elsevier
Background Cleft lip with or without cleft palate (CL/CP) is a prevalent congenital
malformation. Approximately 16 candidate loci for CL/CP have been identified in both …
malformation. Approximately 16 candidate loci for CL/CP have been identified in both …
Identification of a Novel Variant of PDGFC Associated with Nonsyndromic Cleft Lip and Palate in a Chinese Family
X Yu, S Yang, W Xia, X Zhou, M Gao… - … Journal of Genomics, 2023 - Wiley Online Library
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) accounts for 70% of the total
number of patients with cleft lip with or without cleft palate (CL/P) and is the most common …
number of patients with cleft lip with or without cleft palate (CL/P) and is the most common …
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC …
A Calcia, G Gai, E Di Gregorio… - American Journal of …, 2013 - Wiley Online Library
We report on a newborn boy with a bilateral cleft of the primary palate, duplicated
triphalangeal thumbs, and a patent foramen ovale. During childhood he had moderate …
triphalangeal thumbs, and a patent foramen ovale. During childhood he had moderate …
Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: a genetic diagnostic pitfall
A Shibata, K Sugiura, A Suzuki, T Ichiki… - Journal of Dermatological …, 2015 - Elsevier
Background Harlequin ichthyosis (HI), one of the most severe genetic skin disorders, is
autosomal recessively inherited. Mutations in ABCA12, which encodes ATP-binding …
autosomal recessively inherited. Mutations in ABCA12, which encodes ATP-binding …