Search Results - "Bobadilla‐Morales, Lucina"
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Clinical insights from an unusual Turner syndrome manifestation: Congenital cutis verticis gyrata
Published in American journal of medical genetics. Part A (01-06-2023)“…Cutis verticis gyrata (CVG) is classified as primary or secondary according to the absence or presence of underlying soft tissue abnormalities. We report an…”
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Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1
Published in American journal of medical genetics. Part A (01-09-2023)“…Aneurysmal coronary artery disease (ACAD) has been reported rarely in patients with neurofibromatosis type 1 (NF1), mostly in adults. We report on a female…”
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Complete blood count differences in a cohort of Down syndrome neonates with transient abnormal myelopoiesis screened for GATA1 pathogenic variants
Published in American journal of medical genetics. Part A (01-09-2020)“…Transient abnormal myelopoiesis (TAM) raises the risk for acute myeloid leukemia of Down syndrome (DS) (ML‐DS), and both are related to GATA1 pathogenic…”
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MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico
Published in Congenital anomalies (01-09-2021)“…Our study investigated the role of MTHFR C677T and A1298C variants in infants with neural tube defects (NTDs) from western Mexico. Using TaqMan allelic…”
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Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation
Published in American journal of medical genetics. Part A (01-05-2020)“…We report a female patient with craniofrontonasal syndrome (CFNS) who in addition showed other cranial and extracranial midline defects including partial…”
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Prevalence and risk factors for Down syndrome: A hospital‐based single‐center study in Western Mexico
Published in American journal of medical genetics. Part A (01-03-2019)“…Although Hispanics of Mexican origin in the United States have been identified as a population with a particularly higher rate of Down syndrome (DS), there is…”
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Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico
Published in Congenital anomalies (01-07-2018)“…ABSTRACT We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a…”
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Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico
Published in American journal of medical genetics. Part A (01-09-2019)“…Atrioventricular septal defects (AVSDs) have been identified as intriguingly infrequent among Hispanics with Down syndrome (DS) born in the United States. The…”
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Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes
Published in Congenital anomalies (01-09-2019)“…Here, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and other anomalies. The phenotype was due to a 1880…”
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Prevalence of open neural tube defects and risk factors related to isolated anencephaly and spina bifida in live births from the “Dr. Juan I. Menchaca” Civil Hospital of Guadalajara (Jalisco, Mexico)
Published in Congenital anomalies (01-03-2021)“…We determine the prevalence and trends of open neural tube defects (ONTDs) during 1991 to 2019 at the “Dr. Juan I. Menchaca” Civil Hospital of Guadalajara…”
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Prevalence and risk factors for gastroschisis in a public hospital from west México
Published in Congenital anomalies (01-05-2015)“…Mexico is recognized as a country with a high prevalence of gastroschisis, although the cause of this remains unclear. We define the prevalence and potential…”
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An Innovative AI-based primer design tool for precise and accurate detection of SARS-CoV-2 variants of concern
Published in Scientific reports (22-09-2023)“…As the COVID-19 pandemic winds down, it leaves behind the serious concern that future, even more disruptive pandemics may eventually surface. One of the…”
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Acute promyelocytic leukemia with PML/RARA (bcr1, bcr2 and bcr3) transcripts in a pediatric patient
Published in Oncology letters (01-03-2024)“…Patients with acute promyelocytic leukemia (APL) exhibit the t(15;17)(q24.1;q21.2) translocation that produces the promyelocytic leukemia (PML)/retinoic acid…”
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Frequency of chromosome 22q11.2 deletion among newborns with non-syndromic congenital heart defects from western Mexico
Published in Boletín médico del Hospital Infantil de México (Spanish edition) (01-11-2022)“…Background: Congenital heart defects (CHD) are among the most frequent manifestations of 22q11.2 deletion syndrome. Although we found relatively few studies…”
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Descriptive study of the complete blood count in newborn infants with Down syndrome
Published in American journal of medical genetics. Part A (01-04-2017)“…The usefulness of the complete blood count (CBC) during the first week of life in infants with Down syndrome (DS) has been recognized; however, studies are…”
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In vitro effect of curcumin in combination with chemotherapy drugs in Ph + acute lymphoblastic leukemia cells
Published in Oncology letters (01-06-2019)“…Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL), is characterized by the t(9;22)(q34q11) that generates the BCR-ABL protein with…”
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Sole trisomy 6 an uncommon finding in pediatric acute myeloid leukemia, probably associated to bad prognosis
Published in Molecular cytogenetics (04-09-2020)“…Background Acute leukemias represent the main malignancies occurring among children under the age of 15 years. Around 17% corresponds to acute myeloid leukemia…”
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Oblique facial clefts in Johanson-Blizzard syndrome
Published in American journal of medical genetics. Part A (01-06-2016)“…Johanson–Blizzard syndrome (JBS) is considered as an infrequent, but clinically easily recognizable autosomal recessive entity by the pathognomonic combination…”
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Expression profile of NF-κB regulated genes in sporadic colorectal cancer patients
Published in Oncology letters (01-05-2018)“…Colorectal cancer (CRC) is the fourth leading worldwide cause of cancer-associated mortalities. Nuclear factor-κB (NF-κB) is a transcriptional regulator of…”
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Associated congenital anomalies in infants with isolated gastroschisis: A single-institutional experience
Published in American journal of medical genetics. Part A (01-02-2016)“…The aim of our study was to determine the frequency and type of associated congenital anomalies in patients with isolated gastroschisis born at the Dr. Juan I…”
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