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Journal Abstract Search

174 related items for PubMed ID: 33750016

  • 21. Skeletal dysplasias with gracile bones: three new cases, including two offspring of a mother with a dwarfing condition.
    Costa T, Azouz EM, Fitzpatrick J, Kamel-Reid S, Smith CR, Silver MM.
    Am J Med Genet; 1998 Mar 05; 76(2):125-32. PubMed ID: 9511974
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  • 26. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
    Alves RM, Uva P, Veiga MF, Oppo M, Zschaber FCR, Porcu G, Porto HP, Persico I, Onano S, Cuccuru G, Atzeni R, Vieira LCN, Pires MVA, Cucca F, Toralles MBP, Angius A, Crisponi L.
    BMC Med Genet; 2019 Jan 14; 20(1):16. PubMed ID: 30642272
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  • 27. Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, "osteocraniostenosis" and Kleeblattschädel.
    Spear GS.
    Am J Med Genet A; 2006 Nov 01; 140(21):2341-8. PubMed ID: 17036309
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  • 30. Gracile bone dysplasias.
    Kozlowski K, Masel J, Sillence DO, Arbuckle S, Juttnerova V.
    Pediatr Radiol; 2002 Sep 01; 32(9):629-34. PubMed ID: 12195301
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  • 32. Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.
    Naicker D, Rhoda C, Sunda F, Arowolo A.
    Int J Mol Sci; 2024 Feb 29; 25(5):. PubMed ID: 38474092
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  • 34. Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
    Kutkowska-Kaźmierczak A, Boczar M, Kalka E, Castañeda J, Klapecki J, Pietrzyk A, Barczyk A, Malinowska O, Landowska A, Gambin T, Kowalczyk K, Wiśniowiecka-Kowalnik B, Smyk M, Dawidziuk M, Niepokój K, Paczkowska M, Szyld P, Lipska-Ziętkiewicz B, Szczałuba K, Kostyk E, Runge A, Rutkowska K, Płoski R, Nowakowska B, Bal J, Obersztyn E, Gos M.
    Genes (Basel); 2021 Aug 17; 12(8):. PubMed ID: 34440431
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  • 35. A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome.
    Bupp C, Junewick J, Hess JL.
    Clin Dysmorphol; 2020 Oct 17; 29(4):214-216. PubMed ID: 32701632
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  • 36. Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?
    Belengeanu V, Rozsnyai K, Farcaş S, Velea I, Fryns JP.
    Genet Couns; 2005 Oct 17; 16(2):167-71. PubMed ID: 16080297
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  • 37. Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
    Jamsheer A, Olech EM, Kozłowski K, Niedziela M, Sowińska-Seidler A, Obara-Moszyńska M, Latos-Bieleńska A, Karczewski M, Zemojtel T.
    J Hum Genet; 2016 Jul 17; 61(7):577-83. PubMed ID: 27030147
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  • 38. The facio-digito-genital syndrome (Aarskog syndrome): a further delineation of the distinct radiological findings.
    Lizcano-Gil LA, Garcia-Cruz D, Cantu JM, Fryns JP.
    Genet Couns; 1994 Jul 17; 5(4):387-92. PubMed ID: 7888143
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