LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 1278

Search options

  1. Article ; Online: Holoprosencephaly.

    Monteagudo, Ana

    American journal of obstetrics and gynecology

    2020  Volume 223, Issue 6, Page(s) B13–B16

    MeSH term(s) Abortion, Induced ; Craniofacial Abnormalities/complications ; Craniofacial Abnormalities/diagnostic imaging ; Female ; Hedgehog Proteins/genetics ; Holoprosencephaly/complications ; Holoprosencephaly/diagnostic imaging ; Holoprosencephaly/genetics ; Holoprosencephaly/therapy ; Humans ; Microarray Analysis ; Pregnancy ; Prognosis ; Triploidy ; Trisomy 13 Syndrome/complications ; Trisomy 13 Syndrome/genetics ; Trisomy 18 Syndrome/complications ; Trisomy 18 Syndrome/genetics ; Ultrasonography, Prenatal
    Chemical Substances Hedgehog Proteins ; SHH protein, human
    Language English
    Publishing date 2020-11-07
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 80016-8
    ISSN 1097-6868 ; 0002-9378
    ISSN (online) 1097-6868
    ISSN 0002-9378
    DOI 10.1016/j.ajog.2020.08.178
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Um I Zs.152: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article: Holoprosencephaly.

    Hamza, Ameer / Higgins, Martha Jaye

    Autopsy & case reports

    2017  Volume 7, Issue 4, Page(s) 22–25

    Language English
    Publishing date 2017-12-08
    Publishing country Brazil
    Document type Journal Article
    ZDB-ID 2815488-5
    ISSN 2236-1960
    ISSN 2236-1960
    DOI 10.4322/acr.2017.033
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: Holoprosencephaly

    Ameer Hamza / Martha Jaye Higgins

    Autopsy and Case Reports, Vol 7, Iss

    2017  Volume 4

    Keywords Medicine ; R ; Internal medicine ; RC31-1245
    Language English
    Publishing date 2017-12-01T00:00:00Z
    Publisher University of São Paulo
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  4. Book: Holoprosencephaly

    Siebert, Joseph R.

    an overview and atlas of cases

    1990  

    Author's details Joseph R. Siebert
    Keywords Holoprosencephaly ; Arrhinencephalie
    Subject Arhinencephalie ; Arhinenzephalie ; Arrhinenzephalie ; Holoprosenzephalie ; Arrhinencephalie-Syndrom
    Language English
    Size X, 420 S. : zahlr. Ill.
    Publisher Wiley-Liss
    Publishing place New York u.a.
    Publishing country United States
    Document type Book
    HBZ-ID HT003743002
    ISBN 0-471-56745-0 ; 978-0-471-56745-5
    Database Catalogue ZB MED Medicine, Health

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    1991 A 1457 order for loan Magazin

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article: Holoprosencephaly.

    Hahn, Jin S

    Handbook of clinical neurology

    2008  Volume 87, Page(s) 13–37

    MeSH term(s) Behavioral Symptoms/etiology ; Brain/abnormalities ; Brain/embryology ; Brain/pathology ; Craniofacial Abnormalities/etiology ; Craniofacial Abnormalities/pathology ; Developmental Disabilities/etiology ; Epilepsy/etiology ; Holoprosencephaly/classification ; Holoprosencephaly/complications ; Holoprosencephaly/etiology ; Holoprosencephaly/genetics ; Humans ; Magnetic Resonance Imaging ; Movement Disorders/etiology ; Multiple Endocrine Neoplasia/etiology
    Language English
    Publishing date 2008
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/S0072-9752(07)87002-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article ; Online: Holoprosencephaly.

    Dubourg, Christèle / Bendavid, Claude / Pasquier, Laurent / Henry, Catherine / Odent, Sylvie / David, Véronique

    Orphanet journal of rare diseases

    2007  Volume 2, Page(s) 8

    Abstract: Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage ...

    Abstract Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and the face. It is estimated to occur in 1/16,000 live births and 1/250 conceptuses. Three ranges of increasing severity are described: lobar, semi-lobar and alobar HPE. Another milder subtype of HPE called middle interhemispheric variant (MIHF) or syntelencephaly is also reported. In most of the cases, facial anomalies are observed in HPE, like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, ocular hypotelorism or solitary median maxillary central incisor in minor forms. These latter midline defects can occur without the cerebral malformations and then are called microforms. Children with HPE have many medical problems: developmental delay and feeding difficulties, epilepsy, instability of temperature, heart rate and respiration. Endocrine disorders like diabetes insipidus, adrenal hypoplasia, hypogonadism, thyroid hypoplasia and growth hormone deficiency are frequent. To date, seven genes have been positively implicated in HPE: Sonic hedgehog (SHH), ZIC2, SIX3, TGIF, PTCH, GLI2 and TDGF1. A molecular diagnosis can be performed by gene sequencing and allele quantification for the four main genes SHH, ZIC2, SIX3 and TGIF. Major rearrangements of the subtelomeres can also be identified by multiplex ligation-dependent probe amplification (MLPA). Nevertheless, in about 70% of cases, the molecular basis of the disease remains unknown, suggesting the existence of several other candidate genes or environmental factors. Consequently, a "multiple-hit hypothesis" of genetic and/or environmental factors (like maternal diabetes) has been proposed to account for the extreme clinical variability. In a practical approach, prenatal diagnosis is based on ultrasound and magnetic resonance imaging (MRI) rather than on molecular diagnosis. Treatment is symptomatic and supportive, and requires a multidisciplinary management. Child outcome depends on the HPE severity and the medical and neurological complications associated. Severely affected children have a very poor prognosis. Mildly affected children may exhibit few symptoms and may live a normal life.
    MeSH term(s) Adolescent ; Adult ; Animals ; Child ; Child, Preschool ; Female ; Genetic Counseling/methods ; Genetic Testing/methods ; Holoprosencephaly/diagnosis ; Holoprosencephaly/genetics ; Holoprosencephaly/therapy ; Humans ; Infant ; Infant, Newborn ; Mutation ; Pregnancy ; Prenatal Diagnosis/methods ; Prognosis
    Language English
    Publishing date 2007-02-02
    Publishing country England
    Document type Journal Article ; Review
    ISSN 1750-1172
    ISSN (online) 1750-1172
    DOI 10.1186/1750-1172-2-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  7. Article: Holoprosencephaly.

    Thomas, N A / Cherian, A / Sridhar, S

    Journal of postgraduate medicine

    2003  Volume 49, Issue 2, Page(s) 173–174

    MeSH term(s) Holoprosencephaly/diagnostic imaging ; Holoprosencephaly/pathology ; Humans ; Infant, Newborn ; Male ; Radiography
    Language English
    Publishing date 2003-04
    Publishing country India
    Document type Case Reports ; Journal Article
    ZDB-ID 410691-x
    ISSN 0022-3859
    ISSN 0022-3859
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 443: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  8. Article ; Online: Holoprosencephaly

    Henry Catherine / Pasquier Laurent / Bendavid Claude / Dubourg Christèle / Odent Sylvie / David Véronique

    Orphanet Journal of Rare Diseases, Vol 2, Iss 1, p

    2007  Volume 8

    Abstract: Abstract Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage ...

    Abstract Abstract Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and the face. It is estimated to occur in 1/16,000 live births and 1/250 conceptuses. Three ranges of increasing severity are described: lobar, semi-lobar and alobar HPE. Another milder subtype of HPE called middle interhemispheric variant (MIHF) or syntelencephaly is also reported. In most of the cases, facial anomalies are observed in HPE, like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, ocular hypotelorism or solitary median maxillary central incisor in minor forms. These latter midline defects can occur without the cerebral malformations and then are called microforms. Children with HPE have many medical problems: developmental delay and feeding difficulties, epilepsy, instability of temperature, heart rate and respiration. Endocrine disorders like diabetes insipidus, adrenal hypoplasia, hypogonadism, thyroid hypoplasia and growth hormone deficiency are frequent. To date, seven genes have been positively implicated in HPE: Sonic hedgehog ( SHH ), ZIC2 , SIX3 , TGIF , PTCH , GLI2 and TDGF1 . A molecular diagnosis can be performed by gene sequencing and allele quantification for the four main genes SHH , ZIC2 , SIX3 and TGIF . Major rearrangements of the subtelomeres can also be identified by multiplex ligation-dependent probe amplification (MLPA). Nevertheless, in about 70% of cases, the molecular basis of the disease remains unknown, suggesting the existence of several other candidate genes or environmental factors. Consequently, a "multiple-hit hypothesis" of genetic and/or environmental factors (like maternal diabetes) has been proposed to account for the extreme clinical variability. In a practical approach, prenatal diagnosis is based on ultrasound and magnetic resonance imaging (MRI) rather than on molecular diagnosis. Treatment is symptomatic and supportive, and ...
    Keywords Medicine ; R
    Subject code 610
    Language English
    Publishing date 2007-02-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  9. Article ; Online: Holoprosencephaly

    Maryam Niknejadi / Firoozeh Ahmadi / Shohreh Irani

    International Journal of Fertility and Sterility, Vol 2, Iss 1, Pp 39-

    A Case Report and Review of Prenatal Sonographic Findings

    2008  Volume 42

    Abstract: Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between0 ... andlobar. In this case report we are introducing a case of Holoprosencephaly, in 13 weeks of pregnancywhich ...

    Abstract Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between0.56-0.63 of 10,000 live-born infants10. It has classified into three degrees, alobar, semilobar andlobar. In this case report we are introducing a case of Holoprosencephaly, in 13 weeks of pregnancywhich was twin. We could identified this abnormality and the reduction was done in the appropriatetime. The role of prenatal sonography in recognition of the malformation and prognostic value ofthese features are discussed.
    Keywords Holoprosencephaly ; Prenatal Diagnosis ; Ultrasonographic Screening ; Medicine (General) ; R5-920
    Language English
    Publishing date 2008-01-01T00:00:00Z
    Publisher Royan Institute (ACECR), Tehran
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  10. Article ; Online: Holoprosencephaly

    Maryam Niknejadi / Firoozeh Ahmadi / Shohreh Irani

    International Journal of Fertility and Sterility, Vol 2, Iss 1, Pp 39-

    A Case Report and Review of Prenatal Sonographic Findings

    2008  Volume 42

    Abstract: Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between ... lobar. In this case report we are introducing a case of Holoprosencephaly, in 13 weeks of pregnancy ...

    Abstract Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between 0.56-0.63 of 10,000 live-born infants10. It has classified into three degrees, alobar, semilobar and lobar. In this case report we are introducing a case of Holoprosencephaly, in 13 weeks of pregnancy which was twin. We could identified this abnormality and the reduction was done in the appropriate time. The role of prenatal sonography in recognition of the malformation and prognostic value of these features are discussed.
    Keywords holoprosencephaly ; prenatal diagnosis ; ultrasonographic screening ; Medicine (General) ; R5-920
    Language English
    Publishing date 2008-05-01T00:00:00Z
    Publisher Royan Institute (ACECR), Tehran
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

To top