Academic Journals Database
Disseminating quality controlled scientific knowledge

Search Articles for "microcephaly"

ADD TO MY LIST
 
Say syndrome: A new Brazilian case

Author(s): Guion-Almeida M.L. | Kokitsu-Nakata N.M. | Zechi R.M.
Seckle′s syndrome. (a case report).

Author(s): Barve R | Kamat J | Kandoth P
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome

Author(s): Murthy Jyotsna | Babu Ramesh | Ramanan Padmasani
The Homo floresiensis Controversy

Author(s): COLIN GROVES
A Case with 46,XX,dup(X)(q21.3q24) karyotype

Author(s): Selda Şimşek | Alpaslan K. Tuzcu | Diclehan Oral | Turgay Budak
Seckel-like syndrome or Seckel variants?

Author(s): Cherian Mathew
Smith-Lemli-Opitz Syndrome

Author(s): G.Q.Khan,G.Hassan,Shahid I.Tak,D.C.Kundal
Distal arthrogryposis syndrome

Author(s): Kulkarni K | Panigrahi I | Ray M | Marwaha R
Neu-Laxova syndrome in an appropriate for gestational age newborn

Author(s): Dilli Dilek | Yasar Handan | Dilmen Ugur | Ceylaner Gulay
NEONATAL ABSTINENCE SYNDROME - CASE REPORT

Author(s): Aleksandra Matic
ASPM-associated stem cell proliferation is involved in malignant progression of gliomas and constitutes an attractive therapeutic target

Author(s): Bikeye Sandra-Nadia | Colin Carole | Marie Yannick | Vampouille Raphaël | Ravassard Philippe | Rousseau Audrey | Boisselier Blandine | Idbaih Ahmed | Calvo Charles | Leuraud Pascal | Lassalle Myriam | El Hallani Soufiane | Delattre Jean-Yves | Sanson Marc
A Clinical Study Of Physical, Behavioural And Cognitive Phenotype In Fragile X Syndrome

Author(s): Girimaji Sathish Chandra. R | Shoba V | Manjunath KR | Chethan GK | Srinath S | Sheshdri Sheakar. P
Aniridia--Wilms′ tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect.

Author(s): Rao S | Athale U | Kadam P | Gladstone B | Nair C | Pai S | Kurkure P | Advani S
A Giant Occipital Encephalocele

Author(s): Amit Agarwal | Aruna Vijay Chandak | Anand Kakani | Shivshankar Reddy
49, XXXXY Syndrome.

Author(s): Jia-Woei Hou
A viable fetus presenting 68,XX[73]/69,XXX[27] triploid mosaicism

Author(s): Acosta A.X. | Peres L.C. | Mazzucatto L.F. | Pina-Neto J.M.
Three sibs with mild variety of osteopetrosis.

Author(s): Shah A | Boby K | Karande S | Lahiri K | Jain M
Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature

Author(s): Brooks Brian | Meck Jeanne | Haddad Bassem | Bendavid Claude | Blain Delphine | Toretsky Jeffrey
Bird-Headed Dwarf of Seckel

Author(s): Harsha Vardhan B | Muthu M | Saraswathi K | Koteeswaran D
Lenz microphthalmic syndrome in an Indian patient

Author(s): Gupta Arvind | Srinivasan Renuka | Pandian Datta | Babu K
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report

Author(s): Manolakos Emmanouil | Kosyakova Nadezda | Thomaidis Loreta | Neroutsou Rozita | Weise Anja | Mihalatos Markos | Orru Sandro | Kokotas Haris | Kitsos George | Liehr Thomas | Petersen Michael
Baraitser-Reardon (Pseudo-TORCH) sydrome

Author(s): Selim KURTOĞLU | Fatmagül DERİN | Yasemin ALTUNER | Mustafa AKÇAKUŞ | Tamer GÜNEŞ | Figen ÖZTÜRK
Hydrocephalic holoprosencephaly: An oxymoron? Insights into etiology and management

Author(s): Tripathi Anuj | Agrawal Deepak | Sedain Gopal
Chromosome r(10)(p15.3q26.12) in a newborn child: case report

Author(s): Gunnarsson Cecilia | Graffmann Barbara | Jonasson Jon
Cockayne syndrome - A Clinical, Radiological, Audiological And Chromosomal Study

Author(s): Ashraff V V | Sinha S | Hegde Sridevi | Kovoor JME | Arunodaya G R | Taly A B
18p- syndrome: Presentation of two cases with alobar holoprosencenphaly

Author(s): Harry Pachajoa | Wilmar Saldarriaga | Carolina Isaza
Bloom′s syndrome in a 12-year-old Iranian girl

Author(s): Tayebi Naeimeh | Khodaei Hossain
A case of partial trisomy 13 with features similar to ‘C' Syndrome

Author(s): Ahmet Okay Çağlayan | Esad Köklü | Çetin Saatçi | Selim Kurtoğlu | Yusuf Özkul | Munis Dündar
De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH

Author(s): Kasakyan Serdar | Lohmann Laurence | Aboura Azeddine | Quimsiyeh Mazin | Menezo Yves | Tachdjian Gerard | Benkhalifa Moncef
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

Author(s): Ogilvie Caroline | Ahn Joo | Mann Kathy | Roberts Roland | Flinter Frances
Acute myeloid leukemia in Turkish children with Fanconi anemia. One center experience in the period between 1964-1995

Author(s): Sevgi Gözdaşoğlu | Mehmet Ertem | Zümrüt Uysal | Emel Babacan | Memnune Yüksel | Işık Bökesoy | Asuman Sunguroğlu | Ayten Arcasoy | Ayhan Çavdar
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

Author(s): Aktas Dilek | Utine Eda | Mrasek Kristin | Weise Anja | von Eggeling Ferdinand | Yalaz Kalbiye | Posorski Nicole | Akarsu Nurten | Alikasifoglu Mehmet | Liehr Thomas | Tuncbilek Ergul
Pattern recognition on brain magnetic resonance imaging in alpha dystroglycanopathies

Author(s): Bindu Parayil | Gayathri Narayanappa | Bharath Rose | Mahadevan Anita | Sinha Sanjib | Taly A
Human ASPM participates in spindle organisation, spindle orientation and cytokinesis

Author(s): Higgins Julie | Midgley Carol | Bergh Anna-Maria | Bell Sandra | Askham Jonathan | Roberts Emma | Binns Ruth | Sharif Saghira | Bennett Christopher | Glover David | Woods C Geoffrey | Morrison Ewan | Bond Jacquelyn
The use of array-CGH in a cohort of Greek children with developmental delay

Author(s): Manolakos Emmanouil | Vetro Annalisa | Kefalas Konstantinos | Rapti Stamatia-Maria | Louizou Eirini | Garas Antonios | Kitsos George | Vasileiadis Lefteris | Tsoplou Panagiota | Eleftheriades Makarios | Peitsidis Panagiotis | Orru Sandro | Liehr Thomas | Petersen Michael | Thomaidis Loretta
RISK FACTORS AND PROGNOSIS OF EPILEPSY IN CHILDREN WITH HEMIPARETIC CEREBRAL PALSY

Author(s): Parvaneh KARIMZADEH | Mehran AGHA MOHAMMAD POUR | Susan AMIRSALARI | Seyyed Hassan TONEKABONI
Clinical features, acute complications, and outcome of Salmonella meningitis in children under one year of age in Taiwan

Author(s): Wu Hung-Ming | Huang Wan-Yu | Lee Meng-Luen | Yang Albert | Chaou Ko-Ping | Hsieh Lin-Yu
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report

Author(s): Ballini Andrea | Cantore Stefania | Tullo Domenica | Desiate Apollonia
Prenatal exposure of ethanol induces increased glutamatergic neuronal differentiation of neural progenitor cells

Author(s): Kim Ki | Go Hyo | Bak Hae | Choi Chang | Choi Inha | Kim Pitna | Han Seol-Heui | Han So | Shin Chan | Ko Kwang
Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Author(s): Al-Zahrani Jawaher | Al-Dosari Naji | AbuDheim Nada | Alshidi Tarfa | Colak Dilek | Al-Habit Ola | Al-Odaib Ali | Sakati Nadia | Meyer Brian | Ozand Pinar | Kaya Namik
Phenotypic and behavioral variability within Angelman Syndrome group with UPD

Author(s): Fridman Cintia | Varela Monica C. | Valente Kette | Marques-Dias Maria J. | Koiffmann Célia P.
Prenatal diagnosis of Neu-Laxova syndrome: a case report

Author(s): Aslan Halil | Gul Ahmet | Polat Ibrahim | Mutaf Cihan | Agar Mehmet | Ceylan Yavuz
Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion

Author(s): Kouprina Natalay | Pavlicek Adam | Mochida Ganeshwaran H | Solomon Gregory | Gersch William | Yoon Young-Ho | Collura Randall | Ruvolo Maryellen | Barrett J. Carl | Woods C. Geoffrey | Walsh Christopher A | Jurka Jerzy | Larionov Vladimir
An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

Author(s): Knerr Ina | Zschocke Johannes | Schellmoser Stefan | Topf Hans | Weigel Corina | Dötsch Jörg | Rascher Wolfgang
Cri du Chat syndrome

Author(s): Cerruti Mainardi Paola
Common variations in ALG9 are not associated with bipolar I disorder: a family-based study

Author(s): Baysal Bora | Willett-Brozick Joan | Bacanu Silviu-Alin | Detera-Wadleigh Sevilla | Nimgaonkar Vishwajit
Transplacental murine cytomegalovirus infection in the brain of SCID mice

Author(s): Woolf Nigel | Jaquish Dawn | Koehrn Fred
Imaginological characteristics of Fanconi anemia patient: case report

Author(s): Andrés Felipe Pérez Arenas | José Luis González Mendoza
Perlecan controls neurogenesis in the developing telencephalon

Author(s): Girós Amparo | Morante Javier | Gil-Sanz Cristina | Fairén Alfonso | Costell Mercedes
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

Author(s): Kumar Ravinesh | Everman David | Morgan Chad | Slavotinek Anne | Schwartz Charles | Simpson Elizabeth
Clinical and psychoeducational profile of children with specific learning disability and co-occurring attention-deficit hyperactivity disorder

Author(s): Karande Sunil | Satam Nitin | Kulkarni Madhuri | Sholapurwala Rukhshana | Chitre Anita | Shah Nilesh
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Author(s): Ballif Blake | Theisen Aaron | Coppinger Justine | Gowans Gordon | Hersh Joseph | Madan-Khetarpal Suneeta | Schmidt Karen | Tervo Raymond | Escobar Luis | Friedrich Christopher | McDonald Marie | Campbell Lindsey | Ming Jeffrey | Zackai Elaine | Bejjani Bassem | Shaffer Lisa
Assesment of the patients with broncopulmonary dysplasia (BPD) in terms of somatic growth, pulmonary problems and neurodevelopmental features on long-term follow-up

Author(s): Sultan Kavuncuoğlu | Esin Yıldız Aldemir | Emel Altuncu | Ayfer Arduç | Seçil Alpaslan | Gülseren Arslan | Ender Aksüyek | Engin Öztüregen | Nevzat Çizmeci
Estrogens: a new player in spermatogenesis.

Author(s): Serge Carreau | DorothĂŠe Silandre | Camille Bois | HĂŠlene Bouraima | Isabelle Galeraud-Denis | Christelle Delalande
Prenatal evaluation of a fetus with trisomy 18 and additional balanced de novo Rob(13;14).

Author(s): R Leśniewicz | R Posmyk | I Leśniewicz | S Wołczyński
Epilepsy in a child with Wolf-Hirschhorn syndrome

Author(s): Mitić Vesna | Čuturilo Goran | Novaković Ivana | Dimitrijević Nikola | Damnjanović Tatjana | Dimitrijević Aleksandar | Dobričić Valerija | Kostić Vladimir | Radlović Nedeljko
Seckel syndrome

Author(s): Ashrafi MR
Menkes Kinky Hair; a case report

Author(s): M Seifhashemi
INTRAUTERINE FETAL DEMISE OF CO-TWIN IN MULTIFETAL PREGNANCY

Author(s): Kunaal Shinde | Vidyadhar B Bangal | Sai K Borawake | Rashmi K Singh
CRANIOFACIAL MORPHOLOGY AND DENTAL FINDINGS OF SECKEL SYNDROME: CASE REPORTS OF TWO SIBLINGS

Author(s): Zuhal Kirzioglu | M. Semra Ozay Erturk | Yildirim Erdogan
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

Author(s): Kousar Rizwana | Hassan Muhammad | Khan Bushra | Basit Sulman | Mahmood Saqib | Mir Asif | Ahmad Wasim | Ansar Muhammad
Determination of CMV infection in CSF of children with meningoencephalitis: PCR method

Author(s): Noorbakhsh S | Tabatabaei A | Parvaresh M | Tonekaboni H
Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

Author(s): Namavar Yasmin | Barth Peter | Poll-The Bwee | Baas Frank
Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

Author(s): Cuoco Cristina | Ronchetto Patrizia | Gimelli Stefania | Béna Frédérique | Divizia Maria | Lerone Margherita | Mirabelli-Badenier Marisol | Mascaretti Monica | Gimelli Giorgio
ATRX has a critical and conserved role in mammalian sexual differentiation

Author(s): Huyhn Kim | Renfree Marilyn | Graves Jennifer | Pask Andrew
A Linkage Study in 8 Pakistani Families Segregating as Autosomal Recessive Primary Microcephaly

Author(s): M. Hassanullah | S.M. Ibrahim | S. Ahmad | N. Muhammad | Rafiullah | M. Asif | Shahabuddin
Why do you need a reservation system?      Affiliate Program