Prof. Dr. Yasemin Alanay

Perinatal mortality analysis from 2001-2006 at Hacettepe University Hospital.

2010

Source : OpenAlex

Cowden syndrome with bronchial asthma.

PubMed, 2010

PMID 20718196 Source : OpenAlex

Hacettepe Üniversitesi Hastanesi 2001-2006 dönemi perinatal mortalite analizi

Çocuk Sağlığı ve Hastalıkları Dergisi, 2010

Source : OpenAlex

ALX4 dysfunction disrupts craniofacial and epidermal development

Human Molecular Genetics, 2009

DOI 10.1093/hmg/ddp391 PMID 19692347 107 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

Identification of CANT1 Mutations in Desbuquois Dysplasia

The American Journal of Human Genetics, 2009

DOI 10.1016/j.ajhg.2009.10.001 PMID 19853239 76 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

PORCNmutations in focal dermal hypoplasia: coping with lethality

Human Mutation, 2009

DOI 10.1002/humu.20992 PMID 19309688 46 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

Journal of Medical Genetics, 2009

DOI 10.1136/jmg.2008.065201 PMID 19508970 32 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

Human Mutation, 2009

DOI 10.1002/humu.21150 PMID 19877176 31 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

The American Journal of Human Genetics, 2009

DOI 10.1016/j.ajhg.2009.11.005 PMID 20004766 30 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene

European Journal of Pediatrics, 2009

DOI 10.1007/s00431-009-1028-7 PMID 19653001 18 citations (Europe PMC) Source : OpenAlex

Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia

Pediatric Blood & Cancer, 2009

DOI 10.1002/pbc.21966 PMID 19373780 17 citations (Europe PMC) Source : OpenAlex

Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth

Journal of Pediatric Surgery, 2009

DOI 10.1016/j.jpedsurg.2009.10.059 PMID 20105568 6 citations (Europe PMC) Source : OpenAlex

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients

The Turkish Journal of Pediatrics, 2009

DOI 10.24953/turkjped.2009.2288 PMID 19817261 4 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

A new autosomal dominant Peters’ anomaly phenotype expanding the anterior segment dysgenesis spectrum

Acta Ophthalmologica, 2009

DOI 10.1111/j.1600-0420.2007.01082.x PMID 18616618 6 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

PORCNmutations in focal dermal hypoplasia: coping with lethality

Human Mutation, 2009

DOI 10.1002/humu.21125 Source : OpenAlex

Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia

PubMed, 2009

DOI 10.5167/uzh-31672 PMID 20112607 5 citations (Europe PMC) Source : OpenAlex

Le Fort III Bipartition Osteotomy to Treat a Rare Craniofacial Anomaly

Journal of Craniofacial Surgery, 2009

DOI 10.1097/scs.0b013e3181abb29f PMID 19634215 4 citations (Europe PMC) Source : OpenAlex

Partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence: A third patient suggesting autosomal recessive inheritance

American Journal of Medical Genetics Part A, 2009

DOI 10.1002/ajmg.a.32825 PMID 19449409 Texte intégral en libre accèsSource : OpenAlex

Evaluation of prenatal‐onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis

American Journal of Medical Genetics Part A, 2008

DOI 10.1002/ajmg.a.32269 PMID 18627037 48 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

The American Journal of Human Genetics, 2008

DOI 10.1016/j.ajhg.2008.10.011 PMID 19068278 58 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

Clinical and radiographic delineation of odontochondrodysplasia

American Journal of Medical Genetics Part A, 2008

DOI 10.1002/ajmg.a.32214 PMID 18241073 13 citations (Europe PMC) Source : OpenAlex

Cyclic pamidronate treatment in Bruck syndrome: Proposal of a new modality of treatment

Pediatrics International, 2008

DOI 10.1111/j.1442-200x.2008.02752.x PMID 19067906 6 citations (Europe PMC) Source : OpenAlex

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance

The Turkish Journal of Pediatrics, 2008

DOI 10.24953/turkjpediatr.2008.2431 PMID 18773678 3 citations (Europe PMC) Source : OpenAlex

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH

European Journal of Medical Genetics, 2008

DOI 10.1016/j.ejmg.2008.03.002 PMID 18440888 2 citations (Europe PMC) Source : OpenAlex

O.024 Additional malformations in craniofacial surgery patients

Journal of Cranio-Maxillofacial Surgery, 2008

DOI 10.1016/s1010-5182(08)71148-x Source : OpenAlex

The Skeletal Dysplasias

Annals of the New York Academy of Sciences, 2007

DOI 10.1196/annals.1402.072 PMID 18056050 42 citations (Europe PMC) Source : OpenAlex

A multidisciplinary approach to the management of individuals with fragile X syndrome

Journal of Intellectual Disability Research, 2007

DOI 10.1111/j.1365-2788.2006.00942.x PMID 17217479 24 citations (Europe PMC) Source : OpenAlex

Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988–2006)

American Journal of Medical Genetics Part A, 2007

DOI 10.1002/ajmg.a.31711 PMID 17486589 23 citations (Europe PMC) Source : OpenAlex

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia

Journal of Neurosurgery Pediatrics, 2007

DOI 10.3171/ped-07/12/504 PMID 18154022 15 citations (Europe PMC) Source : OpenAlex

Distal partial trisomy 1q: report of two cases and a review of the literature

Prenatal Diagnosis, 2007

DOI 10.1002/pd.1788 PMID 17605151 15 citations (Europe PMC) Source : OpenAlex

Cerebro-facio-thoracic dysplasia: expanding the phenotype

Clinical Dysmorphology, 2007

DOI 10.1097/mcd.0b013e328012e292 PMID 17351359 7 citations (Europe PMC) Source : OpenAlex

Cavernous malformation with Poland–Möbius syndrome

Journal of Neurosurgery Pediatrics, 2007

DOI 10.3171/ped-07/07/079 PMID 17644927 3 citations (Europe PMC) Source : OpenAlex

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Journal of Medical Genetics, 2006

DOI 10.1136/jmg.2006.043687 PMID 16801345 87 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

Congenital contractural arachnodactyly (Beals syndrome)

Orphanet Journal of Rare Diseases, 2006

DOI 10.1186/1750-1172-1-20 PMID 16740166 46 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

American Journal of Medical Genetics Part A, 2006

DOI 10.1002/ajmg.a.31081 PMID 16470600 42 citations (Europe PMC) Source : OpenAlex

Spondylo‐ocular syndrome: A new entity involving the eye and spine

American Journal of Medical Genetics Part A, 2006

DOI 10.1002/ajmg.a.31119 PMID 16470687 11 citations (Europe PMC) Source : OpenAlex

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

Pediatric Radiology, 2006

DOI 10.1007/s00247-006-0217-z PMID 16715218 4 citations (Europe PMC) Source : OpenAlex

Detection of a complex chromosomal aberration in a dysmorphic patient by multicolor FISH and microarray CGH

Genetic counseling, 2006

Source : OpenAlex

The Evolution of Sagittal Segmental Alignment of the Spine During Childhood

Spine, 2005

DOI 10.1097/01.brs.0000149074.21550.32 PMID 15626988 73 citations (Europe PMC) Source : OpenAlex

Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population

The Turkish Journal of Pediatrics, 2005

DOI 10.24953/turkjpediatr.2005.2740 PMID 16363341 15 citations (Europe PMC) Source : OpenAlex

Is Dandy-Walker malformation associated with “distal 13q deletion syndrome”? Findings in a fetus supporting previous observations

American Journal of Medical Genetics Part A, 2005

DOI 10.1002/ajmg.a.30808 PMID 15948192 25 citations (Europe PMC) Source : OpenAlex

Celiac disease screening in 100 Turkish children with Down syndrome

The Turkish Journal of Pediatrics, 2005

DOI 10.24953/turkjpediatr.2005.2701 PMID 16052853 11 citations (Europe PMC) Source : OpenAlex

Response to the letter to “MTHTR 677C‐T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women”

American Journal of Medical Genetics Part A, 2005

DOI 10.1002/ajmg.a.30465 Source : OpenAlex

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

American Journal of Medical Genetics Part A, 2004

DOI 10.1002/ajmg.a.30231 PMID 15523624 125 citations (Europe PMC) Source : OpenAlex

Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for down syndrome among Turkish women

American Journal of Medical Genetics Part A, 2004

DOI 10.1002/ajmg.a.20432 PMID 15103709 34 citations (Europe PMC) Source : OpenAlex

Noonan syndrome and systemic lupus erythematosus: presentation in childhood

Clinical Dysmorphology, 2004

DOI 10.1097/01.mcd.0000127467.04018.6d PMID 15194952 19 citations (Europe PMC) Source : OpenAlex

Oculo‐palato‐cerebral syndrome: A third case supporting autosomal recessive inheritance

American Journal of Medical Genetics Part A, 2004

DOI 10.1002/ajmg.a.30114 PMID 15368502 1 citation (Europe PMC) Source : OpenAlex

Perinatal mortality rate – hospital based study during 1998–2001 at Hacettepe University

Journal of Perinatal Medicine, 2003

DOI 10.1515/jpm.2003.068 PMID 14601268 5 citations (Europe PMC) Source : OpenAlex

Mutations in the gene encoding the RER proteinFKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 86(4):551-9 (2010).

Source : page de profil sur acibadem.com.tr

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.

Source : page de profil sur acibadem.com.tr