Lista de obras -

A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation.

artículo científico publicado en 2014

A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations

artículo científico publicado en 2015

A rare cause of congenital adrenal hyperplasia: Clinical and genetic findings and follow-up characteristics of six patients with 17- hydroxylase deficiency and two novel mutations.

artículo científico publicado en 2018

ALX4 related parietal foramina mimicking encephalocele in prenatal period

artículo científico publicado en 2016

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

artículo científico publicado en 2016

Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

artículo científico publicado en 2018

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

artículo científico publicado en 2017

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

artículo científico publicado en 2017

Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families

artículo científico publicado en 2016

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.

artículo científico publicado en 2017

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

artículo científico publicado en 2015

Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.

artículo científico publicado en 2016

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.

artículo científico publicado en 2017

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

artículo científico publicado en 2017

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

artículo científico publicado en 2018

Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.

artículo científico publicado en 2016

Mild nasal clefting may be predictive for ALX4 heterozygotes.

artículo científico publicado en 2014

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

artículo científico publicado en 2016

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

artículo científico publicado en 2016

Mutations in WNT1 cause different forms of bone fragility

artículo científico publicado en 2013

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.

artículo científico publicado en 2013

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

artículo científico publicado en 2015

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

artículo científico publicado en 2017

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

scientific article published on 17 August 2018

Postnatal diagnosis of 22q11.2 deletion syndrome in fetal megalourethra.

artículo científico publicado en 2015

Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum

scientific article published on 02 January 2019

Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.

artículo científico publicado en 2018

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype

artículo científico publicado en 2019

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

artículo científico publicado en 2018

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

artículo científico publicado en 2018

Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation

artículo científico publicado en 2014

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

artículo científico publicado en 2018

Lista de obras de

A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation.

A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations

A rare cause of congenital adrenal hyperplasia: Clinical and genetic findings and follow-up characteristics of six patients with 17- hydroxylase deficiency and two novel mutations.

ALX4 related parietal foramina mimicking encephalocele in prenatal period

An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.

Mild nasal clefting may be predictive for ALX4 heterozygotes.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Mutations in WNT1 cause different forms of bone fragility

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

Postnatal diagnosis of 22q11.2 deletion syndrome in fetal megalourethra.

Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum

Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis