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  1. AU="Poloniato, Antonella"
  2. AU="Gramenzi, Annagiulia"
  3. AU="Wang, Li-Feng"
  4. AU="Zhao, Changyu"

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  1. Artikel: Editorial: Current and future trends in gestational diabetes diagnosis, care and neonatal outcomes.

    Frontino, Giulio / Succurro, Elena / Corcoy, Rosa / Scialabba, Francesco / Poloniato, Antonella / Scavini, Marina

    Frontiers in endocrinology

    2023  Band 14, Seite(n) 1270472

    Mesh-Begriff(e) Pregnancy ; Infant, Newborn ; Female ; Humans ; Diabetes, Gestational/diagnosis ; Diabetes, Gestational/epidemiology ; Diabetes, Gestational/therapy ; Pregnancy Outcome ; Birth Weight
    Sprache Englisch
    Erscheinungsdatum 2023-11-30
    Erscheinungsland Switzerland
    Dokumenttyp Editorial
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2023.1270472
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Perinatal asphyxia and hypothermic treatment from the endocrine perspective.

    Improda, Nicola / Capalbo, Donatella / Poloniato, Antonella / Garbetta, Gisella / Dituri, Francesco / Penta, Laura / Aversa, Tommaso / Sessa, Linda / Vierucci, Francesco / Cozzolino, Mariarosaria / Vigone, Maria Cristina / Tronconi, Giulia Maria / Del Pistoia, Marta / Lucaccioni, Laura / Tuli, Gerdi / Munarin, Jessica / Tessaris, Daniele / de Sanctis, Luisa / Salerno, Mariacarolina

    Frontiers in endocrinology

    2023  Band 14, Seite(n) 1249700

    Abstract: Introduction: Perinatal asphyxia is one of the three most important causes of neonatal mortality and morbidity. Therapeutic hypothermia represents the standard treatment for infants with moderate-severe perinatal asphyxia, resulting in reduction in the ... ...

    Abstract Introduction: Perinatal asphyxia is one of the three most important causes of neonatal mortality and morbidity. Therapeutic hypothermia represents the standard treatment for infants with moderate-severe perinatal asphyxia, resulting in reduction in the mortality and major neurodevelopmental disability. So far, data in the literature focusing on the endocrine aspects of both asphyxia and hypothermia treatment at birth are scanty, and many aspects are still debated. Aim of this narrative review is to summarize the current knowledge regarding the short- and long-term effects of perinatal asphyxia and of hypothermia treatment on the endocrine system, thus providing suggestions for improving the management of asphyxiated children.
    Results: Involvement of the endocrine system (especially glucose and electrolyte disturbances, adrenal hemorrhage, non-thyroidal illness syndrome) can occur in a variable percentage of subjects with perinatal asphyxia, potentially affecting mortality as well as neurological outcome. Hypothermia may also affect endocrine homeostasis, leading to a decreased incidence of hypocalcemia and an increased risk of dilutional hyponatremia and hypercalcemia.
    Conclusions: Metabolic abnormalities in the context of perinatal asphyxia are important modifiable factors that may be associated with a worse outcome. Therefore, clinicians should be aware of the possible occurrence of endocrine complication, in order to establish appropriate screening protocols and allow timely treatment.
    Mesh-Begriff(e) Infant, Newborn ; Infant ; Pregnancy ; Female ; Child ; Humans ; Asphyxia/complications ; Hypothermia/complications ; Parturition ; Asphyxia Neonatorum/complications ; Asphyxia Neonatorum/therapy ; Asphyxia Neonatorum/diagnosis ; Endocrine System
    Sprache Englisch
    Erscheinungsdatum 2023-10-20
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2023.1249700
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Expanding the spectrum of neonatal-onset AIFM1-associated disorders.

    Zambon, Alberto A / Ghezzi, Daniele / Baldoli, Cristina / Cutillo, Gianni / Fontana, Katia / Sofia, Valentina / Patricelli, Maria Grazia / Nasca, Alessia / Vinci, Stefano / Spiga, Ivana / Lamantea, Eleonora / Fanelli, Giovanna F / Sora, Maria Grazia Natali / Rovelli, Rosanna / Poloniato, Antonella / Carrera, Paola / Filippi, Massimo / Barera, Graziano

    Annals of clinical and translational neurology

    2023  Band 10, Heft 10, Seite(n) 1844–1853

    Abstract: Objectives: Pathogenic variants in AIFM1 have been associated with a wide spectrum of disorders, spanning from CMT4X to mitochondrial encephalopathy. Here we present a novel phenotype and review the existing literature on AIFM1-related disorders.: ... ...

    Abstract Objectives: Pathogenic variants in AIFM1 have been associated with a wide spectrum of disorders, spanning from CMT4X to mitochondrial encephalopathy. Here we present a novel phenotype and review the existing literature on AIFM1-related disorders.
    Methods: We performed EEG recordings, brain MRI and MR Spectroscopy, metabolic screening, echocardiogram, clinical exome sequencing (CES) and family study. Effects of the variant were established on cultured fibroblasts from skin punch biopsy.
    Results: The patient presented with drug-resistant, electro-clinical, multifocal seizures 6 h after birth. Brain MRI revealed prominent brain swelling of both hemispheres and widespread signal alteration in large part of the cortex and of the thalami, with sparing of the basal nuclei. CES analysis revealed the likely pathogenic variant c.5T>C; p.(Phe2Ser) in the AIFM1 gene. The affected amino acid residue is located in the mitochondrial targeting sequence. Functional studies on cultured fibroblast showed a clear reduction in AIFM1 protein amount and defective activities of respiratory chain complexes I, III and IV. No evidence of protein mislocalization or accumulation of precursor protein was observed. Riboflavin, Coenzyme Q10 and thiamine supplementation was therefore given. At 6 months of age, the patient exhibited microcephaly but did not experience any further deterioration. He is still fed orally and there is no evidence of muscle weakness or atrophy.
    Interpretation: This is the first AIFM1 case associated with neonatal seizures and diffuse white matter involvement with relative sparing of basal ganglia, in the absence of clinical signs suggestive of myopathy or motor neuron disease.
    Mesh-Begriff(e) Male ; Infant, Newborn ; Humans ; Mitochondria/genetics ; Thiamine ; Motor Neuron Disease ; Mitochondrial Encephalomyopathies ; Seizures ; Apoptosis Inducing Factor
    Chemische Substanzen Thiamine (X66NSO3N35) ; AIFM1 protein, human ; Apoptosis Inducing Factor
    Sprache Englisch
    Erscheinungsdatum 2023-08-29
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 2740696-9
    ISSN 2328-9503 ; 2328-9503
    ISSN (online) 2328-9503
    ISSN 2328-9503
    DOI 10.1002/acn3.51876
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Maternal anxiety-driven modulation of fetal limbic connectivity designs a backbone linking neonatal brain functional topology to socio-emotional development in early childhood.

    Canini, Matteo / Pecco, Nicolò / Caglioni, Martina / Katušić, Ana / Išasegi, Iris Žunić / Oprandi, Claudia / Scifo, Paola / Pozzoni, Mirko / Lorioli, Laura / Garbetta, Gisella / Poloniato, Antonella / Sora, Maria Grazia Natali / Cavoretto, Paolo I / Barera, Graziano / Candiani, Massimo / Kostović, Ivica / Falini, Andrea / Baldoli, Cristina / Della Rosa, Pasquale Anthony

    Journal of neuroscience research

    2023  Band 101, Heft 9, Seite(n) 1484–1503

    Abstract: A link between maternal anxiety during pregnancy and adverse socio-emotional outcomes in childhood has been consistently sustained on the very early neurodevelopmental alteration of structural pathways between fetal limbic and cortical brain regions. In ... ...

    Abstract A link between maternal anxiety during pregnancy and adverse socio-emotional outcomes in childhood has been consistently sustained on the very early neurodevelopmental alteration of structural pathways between fetal limbic and cortical brain regions. In this study, we provide follow-up evidence for a feed-forward model linking (i) maternal anxiety, (ii) fetal functional neurodevelopment, (iii) neonatal functional network organization with (iv) socio-emotional neurobehavioral development in early childhood. Namely, we investigate a sample of 16 mother-fetus dyads and show how a maternal state-trait anxiety profile with pregnancy-specific worries can significantly influence functional synchronization patterns between regions of the fetal limbic system (i.e., hippocampus and amygdala) and the neocortex, as assessed through resting-state functional magnetic resonance imaging. Generalization of the findings was supported by leave-one-out cross-validation. We further show how this maternal-fetal cross-talk propagates to functional network topology in the neonate, specifically targeting connector hubs, and further maps onto socio-emotional profiles, assessed through Bayley-III socio-emotional scale in early childhood (i.e., in the 12-24 months range). Based on this evidence, we put forward the hypothesis of a "Maternal-Fetal-Neonatal Anxiety Backbone", through which neurobiological changes driven by maternal anxiety could trigger a divergence in the establishment of a cognitive-emotional development blueprint, in terms of the nascent functional homeostasis between bottom-up limbic and top-down higher-order neuronal circuitry.
    Mesh-Begriff(e) Infant, Newborn ; Female ; Pregnancy ; Humans ; Child, Preschool ; Magnetic Resonance Imaging ; Brain/pathology ; Emotions ; Fetus ; Anxiety
    Sprache Englisch
    Erscheinungsdatum 2023-06-14
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 195324-2
    ISSN 1097-4547 ; 0360-4012
    ISSN (online) 1097-4547
    ISSN 0360-4012
    DOI 10.1002/jnr.25207
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel: Massive Amniotic Fluid Aspiration in a Case of Sudden Neonatal Death With Severe Hypoplasia of the Retrotrapezoid/Parafacial Respiratory Group.

    Lavezzi, Anna M / Poloniato, Antonella / Rovelli, Rosanna / Lorioli, Laura / Iasi, Gabriela Alejandra / Pusiol, Teresa / Barera, Graziano / Ferrero, Stefano

    Frontiers in pediatrics

    2019  Band 7, Seite(n) 116

    Abstract: We report a case of a baby, who, after pregnancy complicated by maternal Addison's disease and Hashimoto's thyroiditis and natural delivery, unexpectedly presented a cardiorespiratory collapse and died 1 hour after birth without responding to prolonged ... ...

    Abstract We report a case of a baby, who, after pregnancy complicated by maternal Addison's disease and Hashimoto's thyroiditis and natural delivery, unexpectedly presented a cardiorespiratory collapse and died 1 hour after birth without responding to prolonged neonatal resuscitation maneuvers. The cause of death was reliably established by carrying out a forensic postmortem examination. More specifically, the histological examination of the lungs showed the presence of abundant endoalveolar and endobronchial cornea scales caused by absorption of amniotic fluid. The neuropathological examination of the brainstem highlighted severe hypodevelopment of the retrotrapezoid/parafacial respiratory group, which is a complex of neurons located in the caudal pons that is involved in respiratory rhythm coordination, especially expiration, in conditions of enhanced respiratory drive, as well as in chemoreception. This neuropathological finding shed new light on the mechanisms underlying the massive amniotic fluid aspiration which led to this early death.
    Sprache Englisch
    Erscheinungsdatum 2019-04-04
    Erscheinungsland Switzerland
    Dokumenttyp Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2019.00116
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; Online: Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition.

    Ferrarese, Mattia / Baroni, Marcello / Della Valle, Patrizia / Spiga, Ivana / Poloniato, Antonella / D'Angelo, Armando / Pinotti, Mirko / Bernardi, Francesco / Branchini, Alessio

    Haemophilia : the official journal of the World Federation of Hemophilia

    2019  Band 25, Heft 4, Seite(n) 685–692

    Abstract: Introduction: Inherited deficiencies in the coagulation pathway provide diversified models to investigate the molecular bases of perinatal lethality associated with null-like variants. Differently from X-linked haemophilias, homozygous/doubly ... ...

    Abstract Introduction: Inherited deficiencies in the coagulation pathway provide diversified models to investigate the molecular bases of perinatal lethality associated with null-like variants. Differently from X-linked haemophilias, homozygous/doubly heterozygous null variants in the rare autosomally inherited deficiency of factor X (FX) might be incompatible with perinatal survival.
    Aim: To provide experimental evidence about the null/close-to-null FX function.
    Methods: The residual secreted (ELISA) and functional (thrombin generation assays) protein levels associated with the novel nonsense (c.1382G>A; p.Trp461Ter) and missense (c.752T>C; p.Leu251Pro) variants, found in the proposita with life-threatening symptoms at birth, were characterized through recombinant (r)FX expression.
    Results: The rFX-461Ter showed very low secretion and undetectable function. Expression and function of the predicted readthrough-deriving missense variants (rFX-461Tyr, rFX-461Gln) were also severely impaired. These unfavourable features, due to nucleotide and protein sequence constraints, precluded functional readthrough over the 461 stop codon. Differently, the poorly secreted rFX-251Pro variant displayed residual function that was characterized by anti-TFPI aptamer-based amplification or selective inhibition of activated FX function by fondaparinux in plasma and found to be reduced by approximately three orders of magnitude. Similarly to the rFX-251Pro, a group of catalytic domain missense variants cause poorly secreted molecules with modest function in FX-deficient patients with life-threatening symptoms.
    Conclusions: Our data, contributing to the knowledge of the very severe FX deficiency forms, support life-saving requirement of trace FX function, clearly exemplified by the dysfunctional but not completely inactive rFX-251Pro variant that, albeit with severely reduced function, is compatible with a residual activity ensuring minimal haemostasis and permitting perinatal survival.
    Mesh-Begriff(e) Amino Acid Sequence ; Catalytic Domain/genetics ; Factor X/chemistry ; Factor X/genetics ; Factor X/metabolism ; Gene Expression Regulation ; HEK293 Cells ; Humans ; Infant, Newborn ; Intracranial Hemorrhages/genetics ; Intracranial Hemorrhages/metabolism ; Intracranial Hemorrhages/prevention & control ; Mutation, Missense ; Phenotype
    Chemische Substanzen Factor X (9001-29-0)
    Sprache Englisch
    Erscheinungsdatum 2019-04-17
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 1229713-6
    ISSN 1365-2516 ; 1351-8216 ; 1355-0691
    ISSN (online) 1365-2516
    ISSN 1351-8216 ; 1355-0691
    DOI 10.1111/hae.13761
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel: Prenatal Management of Congenital Human Cytomegalovirus Infection in Seropositive Pregnant Patients Treated with Azathioprine.

    Cavoretto, Paolo Ivo / Fornara, Chiara / Baldoli, Cristina / Arossa, Alessia / Furione, Milena / Candiani, Massimo / Rovere Querini, Patrizia / Barera, Graziano / Poloniato, Antonella / Gaeta, Gerarda / Spinillo, Arsenio / Lilleri, Daniele

    Diagnostics (Basel, Switzerland)

    2020  Band 10, Heft 8

    Abstract: Human cytomegalovirus (HCMV) is the leading infectious agent causing congenital disabilities. The risk of HCMV transmission to the fetus in pregnant women receiving immunosuppressive agents is unknown. We describe two cases of pregnant women with ... ...

    Abstract Human cytomegalovirus (HCMV) is the leading infectious agent causing congenital disabilities. The risk of HCMV transmission to the fetus in pregnant women receiving immunosuppressive agents is unknown. We describe two cases of pregnant women with evidence of pre-conception HCMV protective immunity receiving azathioprine for ulcerative colitis or systemic lupus erythematosus. Both women reactivated the HCMV and transmitted the infection to the fetuses. One newborn showed unilateral hearing deficits and brain abnormalities while the other was asymptomatic. The mother of the symptomatic newborn had low levels of total and HCMV-specific blood CD4
    Sprache Englisch
    Erscheinungsdatum 2020-07-30
    Erscheinungsland Switzerland
    Dokumenttyp Case Reports
    ZDB-ID 2662336-5
    ISSN 2075-4418
    ISSN 2075-4418
    DOI 10.3390/diagnostics10080542
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  8. Artikel ; Online: The effects of the functional interplay between the Default Mode and Executive Control Resting State Networks on cognitive outcome in preterm born infants at 6 months of age.

    Della Rosa, Pasquale Anthony / Canini, Matteo / Marchetta, Elisa / Cirillo, Sara / Pontesilli, Silvia / Scotti, Roberta / Natali Sora, Maria Grazia / Poloniato, Antonella / Barera, Graziano / Falini, Andrea / Scifo, Paola / Baldoli, Cristina

    Brain and cognition

    2020  Band 147, Seite(n) 105669

    Abstract: Preterm birth can affect cognitive functions, such as attention or more generally executive control mechanisms, with severity in impairments proportional to prematurity. The functional cross-talk between the Default Mode (DMN) and Executive Control (ECN) ...

    Abstract Preterm birth can affect cognitive functions, such as attention or more generally executive control mechanisms, with severity in impairments proportional to prematurity. The functional cross-talk between the Default Mode (DMN) and Executive Control (ECN) networks mirrors the integrity of cognitive processing and is directly related to brain development. In this study, a cohort of 20 preterm-born infants was investigated using rs-fMRI. First, we addressed biological maturity of the DMN per se and its interplay with the ECN in terms of patterns of increased functional connectivity. Second, we assessed the impact of the degree of prematurity on the DMN-ECN functional interplay development in relation to cognitive outcome at six months. Our results highlighted the emergence of DMN in preterm neonates, with connectivity strength and synchronization between the anterior DMN hub and frontal areas increasing as a function of biological maturity. Further, cognitive scores at 6 months were predicted by mPFC-ECN connectivity strength with degree of prematurity impacting on mPFC-ECN connectivity and triggering differential patterns of functional maturation of the ECN for very early/early and moderate/late preterm neonates. Our findings suggest that the prematurity window allows to observe precursors of functional plasticity that may underlie different developmental trajectories in preterm children.
    Mesh-Begriff(e) Brain/diagnostic imaging ; Brain Mapping ; Child ; Cognition ; Executive Function ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Pregnancy ; Premature Birth
    Sprache Englisch
    Erscheinungsdatum 2020-12-17
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 603163-8
    ISSN 1090-2147 ; 0278-2626
    ISSN (online) 1090-2147
    ISSN 0278-2626
    DOI 10.1016/j.bandc.2020.105669
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel ; Online: Coronavirus Disease 2019 in Recipient of Allogeneic Hematopoietic Stem Cell Transplantation: Life-threating Features Within the Early Post-engraftment Phase.

    Oltolini, Chiara / Guidetti, Anna / Ripa, Marco / Castiglioni, Barbara / Tassan Din, Chiara / Mastaglio, Sara / Canetti, Diana / Monti, Giacomo / Andolina, Andrea / Molinari, Chiara / Poloniato, Antonella / Mastrangelo, Andrea / Ferrante, Marica / Lanzillotta, Marco / Scarpellini, Paolo / Castagna, Antonella / Corradini, Paolo / Ciceri, Fabio

    HemaSphere

    2020  Band 4, Heft 4, Seite(n) e448

    Schlagwörter covid19
    Sprache Englisch
    Erscheinungsdatum 2020-08-10
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ISSN 2572-9241
    ISSN (online) 2572-9241
    DOI 10.1097/HS9.0000000000000448
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  10. Artikel ; Online: Paths of cognitive and language development in healthy preterm infants.

    Ionio, Chiara / Riboni, Elisa / Confalonieri, Emanuela / Dallatomasina, Chiara / Mascheroni, Eleonora / Bonanomi, Andrea / Natali Sora, Maria Grazia / Falautano, Monica / Poloniato, Antonella / Barera, Graziano / Comi, Giancarlo

    Infant behavior & development

    2016  Band 44, Seite(n) 199–207

    Abstract: Objective: Despite the presence of many studies on difficulties related to premature birth, findings on developmental outcomes are heterogeneous. This could be explained from a biological and environmental point of view, but also from a methodological ... ...

    Abstract Objective: Despite the presence of many studies on difficulties related to premature birth, findings on developmental outcomes are heterogeneous. This could be explained from a biological and environmental point of view, but also from a methodological one. The aims of this study were as follows: assess cognitive and linguistic performance using the BSID-III in a population of healthy preterm infants at 24 and 36 months (corrected age); analyze whether the correction for prematurity should be applied, decide when to stop using corrected age and evaluate possible improvements between 24 and 36 months.
    Methods: Developmental outcome was assessed at 24 and 36 months (corrected age) with the BSID-III in 75 healthy preterm (GA=32.5±1.97; BW=1631.55±453.92) and 69 term-born children (GA=39.77±1.00; BW=3298.95±457.27).
    Results: Preterm infants had significantly lower scores than those of term infants in Cognitive (COG) and Language (LANG REC, LANG EC) scales of the BSID-III at both 24 and 36 months, considering both corrected (CA) and chronological (UCA) age. At 24 months, significant differences between corrected and chronological scores were found for each BSID-III scale, while at 36 months, significant differences between corrected and chronological scores were found for LANG scales. Only the scores in the COG scale were statistically different between 24 and 36 months (F=4.894, P=0.009, η(2)=0.075). Considering only the preterm sample at 24 months, the differences between CA and UCA scores in the COG scale were significantly correlated to GA (p=0.000) and days in hospital (p=0.002;), while differences between CA and UCA scores in the LANG ESP scale were significantly correlated to GA (p=0.010), days in hospital (p=0.001), and birth weight (p=0.007). At 36 months, no significant correlations were found.
    Conclusions: Preterm birth is followed by poorer cognitive and language outcomes during infancy than full-term birth. Age correction of prematurity is useful if the child is under 2 years of age; however, our findings raise concerns about the need for age correction, considering that at later ages, healthy preterm children have a higher rate of developmental delay compared with term infants. With regard to cognitive development, preterm children seem to recover from their initial disadvantage; however, with regard to linguistic development, data confirm that preterm infants are at risk for language difficulties.
    Mesh-Begriff(e) Birth Weight ; Child Development/physiology ; Cognition/physiology ; Developmental Disabilities/diagnosis ; Female ; Humans ; Infant ; Infant, Newborn ; Infant, Premature/physiology ; Infant, Premature/psychology ; Language Development ; Male ; Pregnancy ; Term Birth
    Sprache Englisch
    Erscheinungsdatum 2016-07-21
    Erscheinungsland United States
    Dokumenttyp Comparative Study ; Journal Article
    ZDB-ID 224510-3
    ISSN 1934-8800 ; 1879-0453 ; 0163-6383
    ISSN (online) 1934-8800 ; 1879-0453
    ISSN 0163-6383
    DOI 10.1016/j.infbeh.2016.07.004
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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