Prenatal diagnosis of genetic abnormalities

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Clinical genetics·2010

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Clinical genetics·2007

The value of MLPA in Waardenburg syndrome.

Genetic testing·2007

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Prenatal diagnosis·2005

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Clinical genetics·2005

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Clinical genetics·2004

Balancing the Use of Medications while Breastfeeding.

Clinics in perinatology·2026

Challenges in Designing Clinical Trials to Test New Drugs in the Pregnant and Breastfeeding Woman.

Clinics in perinatology·2026

Drugs and Cell-Based Therapies for the Prevention and Treatment of Neonatal Brain Injury.

Clinics in perinatology·2026

Analgesia, Opioids, and Other Drug Use During Pregnancy and Neonatal Effects.

Clinics in perinatology·2026

Pain and Analgesia in Newborns-Development of a Neonatal Pain Ladder.

Clinics in perinatology·2026

Antibiotic Therapy for the Prevention and Treatment of Neonatal Sepsis.

Clinics in perinatology·2026

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Italian journal of pediatrics·2026

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Diabetes·2026

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

Frontiers in genetics·2026

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Journal of biomedical science·2026

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

BMC medical genomics·2026

The first 25 years of the NICHD Structural Birth Defects Initiative.

Developmental biology·2026

Related Experiment Videos

Prenatal diagnosis of genetic abnormalities

Related Concept Videos

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

The value of MLPA in Waardenburg syndrome.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Balancing the Use of Medications while Breastfeeding.

Challenges in Designing Clinical Trials to Test New Drugs in the Pregnant and Breastfeeding Woman.

Drugs and Cell-Based Therapies for the Prevention and Treatment of Neonatal Brain Injury.

Analgesia, Opioids, and Other Drug Use During Pregnancy and Neonatal Effects.

Pain and Analgesia in Newborns-Development of a Neonatal Pain Ladder.

Antibiotic Therapy for the Prevention and Treatment of Neonatal Sepsis.

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

The first 25 years of the NICHD Structural Birth Defects Initiative.

Related Experiment Videos

Prenatal diagnosis of genetic abnormalities

Related Concept Videos

Related Articles