List of works - Aleksander Jamsheer

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

scientific article

A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2

scientific article published on 14 April 2020

A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation

scientific article published on 01 July 2010

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

scientific article published on 05 March 2020

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

scientific article published on 16 August 2017

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

scientific article

CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy

scientific article published on 08 July 2021

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations

scientific article published on 14 November 2017

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

scientific article published in January 2016

Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation.

scientific article published on March 2009

Compound craniosynostosis, intellectual disability, and Noonan-like facial dysmorphism associated with 7q32.3-q35 deletion

scientific article published on 11 June 2020

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

scientific article published on 01 February 2020

Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

scientific article published on 12 November 2020

Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

scientific article published on 01 November 2018

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

scientific article

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

scientific article published on 08 January 2019

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

scientific article published on 6 December 2011

Epidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM).

scientific article

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

scientific article published on 31 March 2016

Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations

scientific article

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

scientific article published on 31 July 2019

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5

article

Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

scientific article published on 31 October 2020

Genome sequencing in families with congenital limb malformations

scientific article published on 22 June 2021

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

scientific article published on 5 September 2014

Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene

scientific article published in 2022

Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia

scientific article

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

scientific article published on 23 October 2014

Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report

scientific article published on February 2013

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

scientific article published in 2022

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

scientific article published in January 2016

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

scientific article

Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes.

scientific article published on 21 September 2016

MIA is a potential biomarker for tumour load in neurofibromatosis type 1

scientific article

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

scientific article published on 15 February 2014

Next-generation sequencing reveals three novel variants in Polish patients with Usher syndrome

scientific article

Noncoding copy-number variations are associated with congenital limb malformation.

scientific article published on 12 October 2017

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

scientific article published on 29 May 2018

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

scientific article published on 11 September 2019

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family

scientific article

PAX6 3' deletion in a family with aniridia

scientific article published on 10 October 2011

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

scientific article published on 16 March 2015

Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome

scientific article published on 01 July 2019

Position effects at the FGF8 locus are associated with femoral hypoplasia

scientific article published on 24 August 2021

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.

scientific article published on 24 June 2016

Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report

article

Rapidly Progressing Brain Atrophy in a Child With Developmental Regression

scientific article published on 24 November 2018

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects

scientific article published on 28 April 2022

Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20

scientific article published in June 2013

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)

scientific article published on 16 June 2020

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

scientific article published in 2022

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

scientific article published on 27 October 2013

Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps

scientific article

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

scientific article published on 11 November 2020

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings

scientific article published on 23 October 2020

Three new patients with FATCO: fibular agenesis with ectrodactyly

scientific article published on 24 May 2012

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

scientific article published on 6 February 2014

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

scientific article published on 03 February 2020

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

scientific article

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion

scientific article

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes

scientific article published on 30 August 2016

[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases]

scientific article published on 01 January 2007

[Genetic background of isolated forms of congenital malformations of the hand]

scientific article published on 01 July 2008

List of works by Aleksander Jamsheer

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2

A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation.

Compound craniosynostosis, intellectual disability, and Noonan-like facial dysmorphism associated with 7q32.3-q35 deletion

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Epidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM).

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5

Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

Genome sequencing in families with congenital limb malformations

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene

Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes.

MIA is a potential biomarker for tumour load in neurofibromatosis type 1

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

Next-generation sequencing reveals three novel variants in Polish patients with Usher syndrome

Noncoding copy-number variations are associated with congenital limb malformation.

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family

PAX6 3' deletion in a family with aniridia

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome

Position effects at the FGF8 locus are associated with femoral hypoplasia

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.

Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report

Rapidly Progressing Brain Atrophy in a Child With Developmental Regression

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects

Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings

Three new patients with FATCO: fibular agenesis with ectrodactyly

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes

[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases]

[Genetic background of isolated forms of congenital malformations of the hand]