The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years

Literature Cited

1. 1.

   Aglan M, Abdel-Hamid M, Ismail S, Temtamy SA 2014. A report of another Egyptian patient with Temtamy preaxial brachydactyly syndrome associated with a novel nonsense CHSY1 mutation. Middle East J. Med. Genet. 3:37–41
   [Google Scholar]
2. 2.

   Ashour AM, Temtamy SA, El-Darouti M 2003. A probable new syndrome of lipoid proteinosis, congenital cataract and characteristic facies. Egypt. J. Med. Hum. Genet. 4:27–34
   [Google Scholar]
3. 3.

   Bell J. 1951. On brachydactyly and symphalangism. Treasury of Human Inheritance, Vol. 5 LS Penrose 1–31 London: Cambridge Univ. Press
   [Google Scholar]
4. 4.

   Caparros-Martin JA, Aglan MS, Temtamy SA, Otaify GA, Valencia M et al. 2016. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta. Mol. Genet. Genom. Med. 5:28–39
   [Google Scholar]
5. 5.

   Caparrós-Martín JA, De Luca A, Cartault F, Aglan M, Temtamy SA et al. 2015. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. Hum. Mol. Genet. 24:4126–37
   [Google Scholar]
6. 6.

   Caparrós-Martin JA, Valencia M, Pulido V, Martínez-Glez V, Rueda-Arenas I et al. 2013. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfect identifies mutations in five genes and suggests genotype-phenotype correlations. Am. J. Med. Genet. A 161:1354–69
   [Google Scholar]
7. 7.

   Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A et al. 2018. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. J. Med. Genet. 55:278–84
   [Google Scholar]
8. 8.

   Effat L, Kuzmin A, Goltsov N, Kasem N, Meguid NA et al. 1999. Haplotype and mutations at the PAH locus in Egyptian families with PKU. Eur. J. Hum. Genet. 7:259–62
   [Google Scholar]
9. 9.

   El-Aleem AA, Bohm I, Temtamy SA, El-Awady M, Awadalla M et al. 1995. Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection. Hum. Genet. 96:577–84
   [Google Scholar]
10. 10.

    Hamamy H, Antonarakis SE, Cavalli-Sforza LL, Temtamy SA, Romeo G et al. 2011. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet. Med. 13:841–47
    [Google Scholar]
11. 11.

    Hanson DE, Black GCM, Murray PG, Sud A, Temtamy SA et al. 2009. The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am. J. Hum. Genet. 84:801–6
    [Google Scholar]
12. 12.

    Hanson DE, Murray PG, Coulson T, Sud A, Omokanye A et al. 2012. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J. Mol. Endocrinol. 49:267–75
    [Google Scholar]
13. 13.

    Hussein IR, Temtamy SA, El-Beshlawy A, El-Awady M, El-Kammaly G et al. 1997. Screening for β-thalassemia mutations in Egypt by reverse dot blot hybridization Egypt. J. Genet. Cytol. 26:261–71
    [Google Scholar]
14. 14.

    Hussein IR, Temtamy SA, El-Beshlawy A, Fearon C, Shalaby Z et al. 1993. Molecular characterization of β-thalassemia in Egypt. Hum. Mutat. 2:48–52
    [Google Scholar]
15. 15.

    Ismail S, Essawi M, Sedky Z, Hassan H, Fayaifez A et al. 2016. Roberts syndrome: clinical and cytogenetic studies in 8 Egyptian patients and molecular studies in 4 patients with genotype/phenotype correlation. Genet. Couns. 27:305–23
    [Google Scholar]
16. 16.

    Ismail S, Fayez A, Otaify GA, Sayed I, El Ruby MO et al. 2017. Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child. Middle East J. Med. Genet. 6:82–87
    [Google Scholar]
17. 17.

    Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M et al. 2013. Mutations in WNT1 cause different forms of bone fragility. Am. J. Hum. Genet. 92:565–74
    [Google Scholar]
18. 18.

    Lapunzina P, Aglan M, Temtamy SA, Caparrós-Martín JA, Valencia M et al. 2010. Identification of a frame shift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am. J. Hum. Genet. A 87:110–14
    [Google Scholar]
19. 19.

    Li Y, Laue K, Temtamy SA, Aglan M, Kotan DL et al. 2010. Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. Am. J. Hum. Genet. 87:757–67
    [Google Scholar]
20. 20.

    Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H et al. 2010. LRP4 mutations Alter Wnt/β-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. Am. J. Hum. Genet. 86:696–706
    [Google Scholar]
21. 21.

    Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F et al. 2018. Expanding the phenome and variome of skeletal dysplasias. Genet. Med. 20:1609–16
    [Google Scholar]
22. 22.

    Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A et al. 2014. Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum. Mutat. 35:1203–10
    [Google Scholar]
23. 23.

    Makrythanasis P, Temtamy SA, Aglan MS, Otaify GA, Hamamy H, Antonarakis SE 2014. A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. Hum. Mutat. 35:959–63
    [Google Scholar]
24. 24.

    Marafie MJ, Temtamy SA, Rajaram U, Al-Awadi SA, El-Badraman MH, Farag TI 1996. Greig cephalopoly syndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. Am. J. Med. Genet. 66:261–64
    [Google Scholar]
25. 25.

    Martínez-Glez V, Valencia M, Caparrós-Martín JA, Aglan M, Temtamy SA et al. 2012. Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum. Mutat. 33:343–50
    [Google Scholar]
26. 26.

    McElreavey K, Rappaport R, Vilain E, Abbas N, Richaud F et al. 1992. A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum. Genet. 90:121–25
    [Google Scholar]
27. 27.

    McKusick VA. 1969. On lumpers and splitters or the nosology of genetic disease. Birth Defects Orig. Artic. Ser. 5:23–32
    [Google Scholar]
28. 28.

    McKusick VA. 2006. A 60-year tale of spots, maps, and genes. Annu. Rev. Genom. Hum. Genet. 7:1–27
    [Google Scholar]
29. 29.

    Meguid NA, Temtamy SA. 1988. The Carpenter syndrome first report in an Egyptian girl presenting the Kleeblattschaedel anomaly and review of literature. Egypt. J. Pediatr. 5:541–250
    [Google Scholar]
30. 30.

    Miller JD, McKusick VA, Malvaux P, Temtamy SA, Salinas C 1975. The 3-M syndrome: a heritable low birth weight dwarfism. Birth Defects Orig. Artic. Ser. 11:39–47
    [Google Scholar]
31. 31.

    Miller JD, Temtamy SA, Levin LS, Dorset JB 1975. Skeletal dysplasia with soft tissue tumors, ocular, dental and digital anomalies. A new syndrome. Birth Defects Orig. Artic. Ser. 11:334
    [Google Scholar]
32. 32.

    Nelson WE 1959. Nelson Textbook of Pediatrics Philadelphia: Saunders
33. 33.

    Puig-Hervás MT, Temtamy SA, Aglan M, Valencia M, Martínez-Glez V et al. 2012. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome—osteogenesis imperfecta phenotypic spectrum. Hum. Mutat. 33:1444–49
    [Google Scholar]
34. 34.

    Rady MS, Baffico M, Khalifa AS, Heshmat NM, El-Moselhy S et al. 1997. Identification of Mediterranean β-thalassemia mutations by reverse dot blot in Italians and Egyptians. Hemoglobin 21:59–69
    [Google Scholar]
35. 35.

    Ravel A, Chouery E, Stora S, Jalkh N, Villard L et al. 2011. How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?. Am. J. Med. Genet. A 155:880–84
    [Google Scholar]
36. 36.

    Rogers JG, Levin DS, Dorset JP, Temtamy SA 1977. A postaxial polydactyly-dental vertebral syndrome. J. Pediatr. 90:230–35
    [Google Scholar]
37. 37.

    Scott EM, Halees A, Itan Y, Spencer EG, He Y et al. 2016. Characterization of greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat. Genet. 48:1071–76
    [Google Scholar]
38. 38.

    Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S et al. 2013. Mutations in EOGT confirm the genetic heterogeneity of autosomal recessive Adams-Oliver syndrome. Am. J. Hum. Genet. 92:598–604
    [Google Scholar]
39. 39.

    Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH et al. 2019. Genomic and phenotypic delineation of congenital microcephaly. Genet. Med. 21:545–52
    [Google Scholar]
40. 40.

    Stránecký V, Hoischen A, Hartannova H, Zaki M, Chaudhary A et al. 2013. Mutations in ANTXR1 cause GAPO syndrome. Am. J. Hum. Genet. 92:792–79
    [Google Scholar]
41. 41.

    Temtamy SA. 1966. Carpenter's syndrome: acrocephalopolysyndactytly, an autosomal recessive syndrome. J. Pediatr. 69:111–20
    [Google Scholar]
42. 42.

    Temtamy SA. 1966. Genetic factors in hand malformations PhD Thesis, Johns Hopkins Univ Baltimore, MD:
43. 43.

    Temtamy SA. 1985. The genetics of hand malformations, updated. Congenit. Anom. 25:73–92
    [Google Scholar]
44. 44.

    Temtamy SA. 1998. Prevention of genetic diseases and malformations in newborns. Sci. J. Minist. Health Popul. 2:22–27
    [Google Scholar]
45. 45.

    Temtamy SA. 2005. Catel–Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome. ? Clin. Dysmorphol. 14:211
    [Google Scholar]
46. 46.

    Temtamy SA. 2013. Two different Temtamy syndromes. Clin. Dysmorphol. 22:91
    [Google Scholar]
47. 47.

    Temtamy SA, Abdel-Hamid J, Hussein F, Abdel-Salam N, Meguid NA et al. 1991. Megalocornea mental retardation syndrome (MMR): delineation of a new entity (MMR-2). Am. J. Hum. Genet. 49:Suppl.125
    [Google Scholar]
48. 48.

    Temtamy SA, Aglan MS. 2012. Consanguity and genetic diseases in Egypt. Middle East J. Med. Genet. 1:12–17
    [Google Scholar]
49. 49.

    Temtamy SA, Aglan MS, Ashour AM, Ramzy MI, Hosny LA, Mostafa MI 2006. 3-M syndrome: a report of three Egyptian cases with review of the literature. Clin. Dysmorphol. 15:55–64
    [Google Scholar]
50. 50.

    Temtamy SA, Aglan MS, Ashour AM, Zaki MS 2007. Adams-Oliver syndrome: further evidence of an autosomal recessive variant. Clin. Dysmorphol. 16:141–49
    [Google Scholar]
51. 51.

    Temtamy SA, Aglan MS, Nemat AH, Eid M 2003. Expanding the phenotypic spectrum of the Baller-Gerold syndrome. Genet. Couns. 14:299–312
    [Google Scholar]
52. 52.

    Temtamy SA, Aglan MS, Topaloglu AK, Wollnik B, Amr K et al. 2012. Definition of the phenotypic spectrum of Temtamy preaxial brachydactyly syndrome associated with autosomal recessive CHYS1 mutations. Middle East J. Med. Genet. 1:64–70
    [Google Scholar]
53. 53.

    Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M et al. 2008. Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. Hum. Mutat 29:931–38
    [Google Scholar]
54. 54.

    Temtamy SA, El-Meligy MR, Badrawy HS, Meguid MS, Safwat HM 1974. Metaphyseal dysplasia, anetoderma and optic atrophy, an autosomal recessive syndrome. Birth Defects Orig. Artic. Ser. 10:61–71
    [Google Scholar]
55. 55.

    Temtamy SA, Hussen DF. 2017. Genetics and genomics in Egypt: steady pace. Mol. Genet. Genom. Med. 5:8–14
    [Google Scholar]
56. 56.

    Temtamy SA, Ismail S, Helmy NI 2006. Roberts syndrome: a study of 4 new Egyptian patients with comparison of clinical and cytogenetic studies. Genet. Couns. 17:1–13
    [Google Scholar]
57. 57.

    Temtamy SA, Ismail S, Nemat A 2003. Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome. Clin. Dysmorph. 12:77–83
    [Google Scholar]
58. 58.

    Temtamy SA, Kandil MR, Demerdash AM, Hassan WA, Meguid NA, Afifi HH 1994. An epidemiological/genetic study of mental subnormality in Assiut governorate, Egypt. Clin. Genet. 46:347–51
    [Google Scholar]
59. 59.

    Temtamy SA, McKusick VA. 1978. The Genetics of Hand Malformations New York: Liss
60. 60.

    Temtamy SA, Meguid NA, Ismail S, Ramzy MI 1998. A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies. Clin. Dysmorphol. 7:249–55
    [Google Scholar]
61. 61.

    Temtamy SA, Meguid NA, Mazen I, Ismail SR, Kassem NS, Bassiouni RA 1998. Genetic epidemiological study of malformations at birth in Egypt. East. Mediterr. Health J. 4:252–59
    [Google Scholar]
62. 62.

    Temtamy SA, Miller JD, Maumenee IH 1975. The Coffin-Lowry syndrome: an inherited facio-digital mental retardation syndrome. J. Pediatr. 86:724–31
    [Google Scholar]
63. 63.

    Temtamy SA, Rogers J. 1976. Macrodactyly, hemihypertrophy and connective tissue nevi: a new syndrome with review of the literature. J. Pediatr. 89:924–27
    [Google Scholar]
64. 64.

    Temtamy SA, Salam MA, Aboul-Ezz EHA, Hussein FH, Helmy SAH, Shalash BA 1996. New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism, absent corpus callosum, iris coloboma and connective tissue dysplasia. Clin. Dysmorph. 5:231–40
    [Google Scholar]
65. 65.

    Temtamy SA, Shalash B. 1974. Genetic heterogeneity of congenital cataract, microphthalmia and nystagmus. Birth Defects Orig. Artic. Ser. 10:292
    [Google Scholar]
66. 66.

    Temtamy SA, Shoukry AS, Ghaly I, El-Meligy B, Boulos SY 1975. The Duane/radial dysplasia syndrome: an autosomal dominant disorder. Birth Defects Orig. Artic. Ser. 11:344–45
    [Google Scholar]
67. 67.

    Temtamy SA, Sinbawy AH. 1991. Cataract, hirsutism and mental retardation (CAHMR): a new autosomal recessive syndrome. Am. J. Med. Genet. 41:432–34
    [Google Scholar]
68. 68.

    Tenorio J, Álvarez I, Riancho-Zarrabeitia L, GÁ Martos-Moreno, Mandrile G et al. 2017. Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of hypophosphatasia. Am. J. Med. Genet. A 173:601–10
    [Google Scholar]
69. 69.

    Valencia M, Caparrós-Martin JA, Sirerol-Piquer MS, García-Verdugo JM, Martínez-Glez V et al. 2014. Report of a newly identified patient with mutations in BMP1 and underlying pathogenetic aspects. Am. J. Med. Genet. A 164:1143–50
    [Google Scholar]
70. 70.

    Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D et al. 2009. Widening the mutation spectrum of EVC and EVC2: Ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Hum. Mutat. 30:1667–75
    [Google Scholar]