A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.

[1]  D. Sillence,et al.  Nosology of genetic skeletal disorders: 2023 revision , 2023, American journal of medical genetics. Part A.

[2]  G. Węgrzyn,et al.  Molecular Mechanism of Induction of Bone Growth by the C-Type Natriuretic Peptide , 2022, International journal of molecular sciences.

[3]  A. Pagnamenta,et al.  Variable skeletal phenotypes associated with biallelic variants in PRKG2 , 2021, Journal of Medical Genetics.

[4]  N. Tommerup,et al.  A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and Brachydactyly Type C+ in a 6 generations family: Clinical report and mini review. , 2021, European journal of medical genetics.

[5]  K. Jażdżewski,et al.  BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype , 2021, Molecular genetics & genomic medicine.

[6]  G. Lenaers,et al.  Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes , 2021, Molecular vision.

[7]  Majida Charif,et al.  Morocco's First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges , 2020, BioMed research international.

[8]  S. Kapoor,et al.  Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia , 2020, Journal of Medical Genetics.

[9]  A. Gigout,et al.  BMPR1A is necessary for chondrogenesis and osteogenesis, whereas BMPR1B prevents hypertrophic differentiation , 2020, Journal of Cell Science.

[10]  J. Nickel,et al.  Specification of BMP Signaling , 2019, Cells.

[11]  Jacques Young,et al.  BMPR1A and BMPR1B missense mutations cause primary ovarian insufficiency. , 2019, The Journal of clinical endocrinology and metabolism.

[12]  S. Leal,et al.  A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter–Thompson type , 2018, Annals of human genetics.

[13]  W. Chung,et al.  Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults , 2018, Circulation. Genomic and precision medicine.

[14]  W. Ahmad,et al.  Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type‐grebe in consanguineous families , 2017, Congenital anomalies.

[15]  Mónica Mártinez-García,et al.  Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5 , 2016, Journal of Bone and Mineral Metabolism.

[16]  K. Lyons,et al.  Deletion of BMP receptor type IB decreased bone mass in association with compromised osteoblastic differentiation of bone marrow mesenchymal progenitors , 2016, Scientific Reports.

[17]  M Ghaheri,et al.  A comparative evaluation of four DNA extraction protocols from whole blood sample. , 2016, Cellular and molecular biology.

[18]  S. Basit,et al.  Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population , 2015, Pakistan journal of medical sciences.

[19]  D. Horn,et al.  A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia , 2015, Orphanet Journal of Rare Diseases.

[20]  P. Beighton,et al.  Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly. , 2015, Birth defects research. Clinical and molecular teratology.

[21]  J. Allanson,et al.  Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1 , 2015, European Journal of Human Genetics.

[22]  S. Mundlos,et al.  Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe , 2013, European Journal of Human Genetics.

[23]  H. Nakai,et al.  Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family , 2013, Human Genetics.

[24]  Y. Furutani,et al.  Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension. , 2012, Circulation journal : official journal of the Japanese Circulation Society.

[25]  J. Jalil,et al.  Grebe syndrome: a rare association with congenital heart disease. , 2012, Journal of the College of Physicians and Surgeons--Pakistan : JCPSP.

[26]  S. Basit,et al.  A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family , 2008, BMC Medical Genetics.

[27]  E. Faqeih,et al.  Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5 , 2008, Journal of Bone and Mineral Metabolism.

[28]  S. Mundlos,et al.  Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia , 2008, American journal of medical genetics. Part A.

[29]  S. Mundlos,et al.  A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2 , 2006, European Journal of Human Genetics.

[30]  E. Obersztyn,et al.  Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene , 2005, American journal of medical genetics. Part A.

[31]  Joachim Nickel,et al.  A single residue of GDF-5 defines binding specificity to BMP receptor IB. , 2005, Journal of molecular biology.

[32]  S. Mundlos,et al.  A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies , 2005, Journal of Medical Genetics.

[33]  S. Mundlos,et al.  Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. , 2004, American journal of human genetics.

[34]  S. Mundlos,et al.  Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2 , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[35]  S. Al-yahyaee,et al.  Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family , 2003, American journal of medical genetics. Part A.

[36]  A. Winterpacht,et al.  Grebe Dysplasia And The Spectrum Of CDMP1 Mutations , 2003, Pediatric pathology & molecular medicine.

[37]  K. Nakao,et al.  Cyclic GMP-dependent protein kinase II plays a critical role in C-type natriuretic peptide-mediated endochondral ossification. , 2002, Endocrinology.

[38]  L. Tsui,et al.  Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. , 2002, American journal of medical genetics.

[39]  L. Tsui,et al.  Mutation in the cartilage‐derived morphogenetic protein‐1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome) , 2002, Clinical genetics.

[40]  Ken W. Y. Cho,et al.  Intracellular BMP signaling regulation in vertebrates: pathway or network? , 2001, Developmental biology.

[41]  N. Tamura,et al.  Natriuretic Peptide Regulation of Endochondral Ossification , 1998, The Journal of Biological Chemistry.

[42]  G. Ramsby,et al.  Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers. , 1998, American journal of medical genetics.

[43]  Frank P. Luyten,et al.  Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1 , 1997, Nature Genetics.

[44]  F. Luyten,et al.  A human chondrodysplasia due to a mutation in a TGF-β superfamily member , 1996, Nature Genetics.

[45]  J. Červenka,et al.  A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type , 1989, Human Genetics.

[46]  J. Opitz,et al.  An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei. , 1985, American journal of medical genetics.

[47]  M. W. Thompson,et al.  Acromesomelic dwarfism: Description of a patient and comparison with previously reported cases , 1976, Human Genetics.

[48]  A. Tolun,et al.  Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility , 2018, European Journal of Human Genetics.