All individuals with variants in gene SERPINF1

109 entries on 2 pages. Showing entries 1 - 100.
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00291645 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 85 Mohammed Faruq
00295529 SERPINF1 - - - - - - - - - - ? - 1 1 Muhammad Umair
00300379 Fam33 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 2 1 Johan den Dunnen
00300380 Fam34 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 2 1 Johan den Dunnen
00300381 Fam35 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 1 1 Johan den Dunnen
00300434 Fam87 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 1 1 Johan den Dunnen
00304568 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00326414 174848 - - M ? Syria - - - - - OI6 clinically osteogenesis imperfecta, multiple fractures of long tubular bones 1 1 Andreas Laner
00331562 12DG0479 ,12DG0480 PubMed: Maddirevula 2018 family, 2 affected (2M) M yes - Arab - - - - skeletal dysplasia Recurrent fractures, Kyphosis, Osteopenia, Vertebral compression fractures 1 2 LOVD
00331563 13DG1467 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Recurrent fractures, Delayed gross motor development 1 1 LOVD
00361765 - - - - - - - - - - - OI5 Recurrent fractures, microphthalmia Developmental delay 1 1 Anju Shukla
00372914 OI_F6 PubMed: Shaheen 2012 - - - Saudi Arabia - - - - - OI - 1 1 Raymond Dalgleish
00372915 PUMC-74 PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020 - - - China - - - - - OI 2.33 y-first fracture, 18 fractures; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis 1 1 Xiuli Zhao
00372916 P.1 PubMed: Barbirato 2016 - - - Brazil - - - - - OI - 2 1 Raymond Dalgleish
00372917 - PubMed: Cho 2013 - - - Korea - - - - - OI - 2 1 Raymond Dalgleish
00372918 PUMC-331 PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020 - - - China - - - - - OI 0.02 y-first fracture, 25 fractures; height Z -2.93; scoliosis; no blue sclerae; no dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis 1 1 Xiuli Zhao
00372919 P.7 PubMed: Barbirato 2016 - - - Brazil - - - - - OI - 1 1 Raymond Dalgleish
00372920 - PubMed: Ziff 2016 - - - - - - - - - OTSC - 1 1 Raymond Dalgleish
00372921 - PubMed: Ji 2019 - - - - - - - - - OI - 1 1 Raymond Dalgleish
00372922 Patient 4 PubMed: Wang 2017 The patient in this study was presented again as Family 33 by {PMID28725987:Liu et al., 2017} but with a phenotype of OI III. - - China - - - - - OI - 2 1 Raymond Dalgleish
00372923 MAA - - - - - - - - - - ? - 5 1 Ahmed Khairy Saad
00372924 AN_005837 PubMed: Essawi 2018 - - - Palestine - - - - - OI - 1 1 Sofie Symoens
00372925 PUMC-150 PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020 - - - China - - - - - OI 1.50 y-first fracture, 55 fractures; height Z -7.19; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; ptosis 2 1 Xiuli Zhao
00372926 P47 PubMed: Mrosk 2018 - - - India - - - - - OI - 1 1 Raymond Dalgleish
00372927 PUMC-4 PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020 - - - China - - - - - OI 1y-first fracture, 30 fractures; height Z -3.24; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; able to walk; no ptosis 2 1 Xiuli Zhao
00372928 PUMC-306 PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020 - - - China - - - - - OI 4y-first fracture, 7 fractures; height Z -9.97; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis 1 1 Xiuli Zhao
00372929 - PubMed: Tucker 2012 - - - - - - - - - OI - 1 1 Raymond Dalgleish
00372930 Patient 3 PubMed: Rauch 2012 This patient was previously described in PubMed: Glorieux et al., 2002 as Patient 3. This patient is described as Individual T11 by {PMID25086671:Rauch et al., 2014}. - - France;Ireland French-Canadian - - - - OI - 2 1 Raymond Dalgleish
00372931 Patient 4 PubMed: Rauch 2012 This patient was previously described in PubMed: Glorieux et al., 2002 as Patient 4. - - Nicaragua - - - - - OI - 1 1 Raymond Dalgleish
00372932 Patient 7 PubMed: Rauch 2012 This patient was previously described in PubMed: Glorieux et al., 2002 as Patient 7. Only one SEPRPINF1 sequence variant has been identified for this patient. - - Germany;Poland - - - - - ? - 1 1 Raymond Dalgleish
00372933 Patient 1 PubMed: Wang 2017 The probands mother was confirmed to harbour the sequence variant, but the variant was not detected in the fathers DNA. Possible explanations include non-paternity or that the father is mosaic for the variant. - - China - - - - - OI - 1 1 Raymond Dalgleish
00372934 No. 72 PubMed: Caparros-Martin 2016 - - - Spain - - - - - OI - 2 1 Raymond Dalgleish
00372935 No. 67 PubMed: Caparros-Martin 2016 - - - Egypt - - - - - OI - 1 1 Raymond Dalgleish
00372936 PUMC-33 PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020 - - - China - - - - - OI 3 fractures; no blue sclerae; no dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis 1 1 Xiuli Zhao
00372937 P21 PubMed: Mrosk 2018 - - - India - - - - - OI - 1 1 Raymond Dalgleish
00372938 Patient 2 PubMed: Wang 2017 - - - China - - - - - OI - 2 1 Raymond Dalgleish
00372939 Family 2 PubMed: Zhang 2018 - - - China - - - - - OI - 1 1 Raymond Dalgleish
00372940 Patient IV-3 PubMed: Homan 2011 - - - France French-Canadian - - - - OI - 1 1 Raymond Dalgleish
00372941 Patient 5 PubMed: Rauch 2012 This patient was previously described in PubMed: Glorieux et al., 2002 as Patient 5. - - France;Germany French-Canadian - - - - OI - 1 1 Raymond Dalgleish
00372942 Patient 11 PubMed: Rauch 2012 - - - France French-Canadian - - - - OI - 1 1 Raymond Dalgleish
00372943 Patient 3 PubMed: Becker 2011 SDS-PAGE analysis of collagen types I, III and V for this patient showed normal migration.; This individual was also presented as Patient 1 by {PMID25257953:Hoyer-Kuhn et al., 2014}. - - Turkey - - - - - OI - 1 1 Raymond Dalgleish
00372944 - PubMed: Ziff 2016 - - - - - - - - - OTSC - 1 1 Raymond Dalgleish
00372945 - PubMed: Ziff 2016 A subsequent study, {PMID30968248:Valgaeren et al., 2019}, demonstrates that variant detected in this patient is not pathogenic. - - - - - - - - OTSC - 1 1 Raymond Dalgleish
00372946 Patient 5 PubMed: Wang 2017 The probands younger sibling (Patient 6) also harbours the same c.397C>T variant. A second variant has not been identified in this family. - - China - - - - - OI - 1 1 Raymond Dalgleish
00372947 - PubMed: Venturi 2011 - - yes Italy;Sweden;France - - - - - OI - 1 1 Raymond Dalgleish
00372948 - PubMed: Jin 2018 - - - - - - - - - OI - 1 1 Raymond Dalgleish
00372949 Patient 8 PubMed: Rauch 2012 The patients brother (Patient 9) is also homozygous for this deletion. - - Ecuador - - - - - OI - 1 1 Raymond Dalgleish
00372950 - PubMed: Ziff 2016 - - - - - - - - - OTSC - 1 1 Raymond Dalgleish
00372951 3090 - - - - - - - - - - OI - 2 1 Ahmed Khairy Saad
00372952 - PubMed: Rauch 2014 The precise end points of the exon 5 deletion are not defined. - - - - - - - - OI - 1 1 Raymond Dalgleish
00372953 - PubMed: Ziff 2016 - - - - - - - - - OTSC - 1 1 Raymond Dalgleish
00372954 - PubMed: Ziff 2016 - - - - - - - - - OTSC - 1 1 Raymond Dalgleish
00372955 Patient 4 PubMed: Stephen 2015 The patient has one affected sister and the parents are consanguineous and confirmed to be heterozygous for the variant. - - India - - - - - OI - 1 1 Raymond Dalgleish
00372956 - PubMed: Al-Jallad 2014 - - - - - - - - - OI - 1 1 Raymond Dalgleish
00372957 - PubMed: Ziff 2016 Patient ID OTSC134 corresponds to Family B. ; The reported variant in this patient lies in the 5´UTR of an alternative transcript (ENST00000573763.1) which is the major transcript in stapes bone. The substitution (c.-1G>A) results in altered expression of that transcript. - - - Europe;Caribbean - - - - OTSC - 1 1 Raymond Dalgleish
00372958 OI 18 PubMed: Mohd Nawawi 2018 SERPINF1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype. - - Malaysia - - - - - OI - 1 1 Raymond Dalgleish
00372959 P.8 PubMed: Barbirato 2016 - - - Brazil - - - - - OI - 1 1 Raymond Dalgleish
00372960 P.9 PubMed: Barbirato 2016 - - - Brazil - - - - - OI - 1 1 Raymond Dalgleish
00372961 P.10 PubMed: Barbirato 2016 - - - Brazil - - - - - OI - 1 1 Raymond Dalgleish
00372962 P4 PubMed: Mrosk 2018 - - - India - - - - - OI - 1 1 Raymond Dalgleish
00372963 Family 9 PubMed: Caparrós-Martin 2013 - - - Egypt - - - - - OI - 1 1 Victor L Ruiz-Perez
00372964 Family 10 PubMed: Caparrós-Martin 2013 - - - Egypt - - - - - OI - 1 1 Victor L Ruiz-Perez
00372965 3206 - - - - - - - - - - OI - 1 1 Ahmed Khairy Saad
00372966 3398 - - - - - - - - - - OI - 1 1 Ahmed Khairy Saad
00372967 OI_F12 PubMed: Shaheen 2012 - - - Saudi Arabia - - - - - OI - 1 1 Raymond Dalgleish
00372968 Patient 1 PubMed: Becker 2011 The proband also has an older brother (Patient 2) who is homozygous for the same variant and has OI III. Both parents (second cousins) and both sisters are heterozygous for the variant and unaffected.; This individual was also presented as Patient 3, and the sibling as Patient 4, by {PMID25257953:Hoyer-Kuhn et al., 2014}. - - - Arab - - - - OI - 1 1 Raymond Dalgleish
00372969 Fam8Pat9 PubMed: Caparrós-Martin 2013 younger brother (patient 10, AN_002120) is also homozygous for this variant. - - Egypt - - - - - OI - 1 1 Victor L Ruiz-Perez
00372970 No. 69 PubMed: Caparros-Martin 2016 - - - Egypt - - - - - OI - 1 1 Raymond Dalgleish
00372971 Individual 1 PubMed: Ward 2016 - - - Canada Canada-N - - - - OI - 1 1 Raymond Dalgleish
00372972 Individual 2 PubMed: Ward 2016 - - - Canada Canada-N - - - - OI - 1 1 Raymond Dalgleish
00372973 - PubMed: Al-Jallad 2014 - - - - - - - - - OI - 1 1 Raymond Dalgleish
00372974 Patient 12 PubMed: Rauch 2012 - - - Nepal - - - - - OI - 1 1 Raymond Dalgleish
00372975 Patient 5 PubMed: Stephen 2015 The patient has three affected brothers and the parents are consanguineous and confirmed to be heterozygous for the variant. - - India - - - - - OI - 1 1 Raymond Dalgleish
00372976 PUMC-275 PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020 - - - China - - - - - OI 0.50 y-first fracture, 30 fractures; height Z -2.46; scoliosis; blue sclerae; no dentinogenesis imperfecta; no hearing loss; no ptosis 1 1 Xiuli Zhao
00372977 P41 PubMed: Mrosk 2018 - - - India - - - - - OI - 1 1 Raymond Dalgleish
00372978 PUMC-255 PubMed: Li 2019, Journal: Li 2019, PubMed: Li 2020 - - - China - - - - - OI 1.25 y-first fracture, 100 fractures; height Z -8.25; scoliosis; no blue sclerae; no dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis 1 1 Xiuli Zhao
00372979 Family 1 PubMed: Zhang 2018 The patient appears superficially to have a homozygous sequence variant. However, whilst the patients father was heterozygous for the variant, the mother and the patient appear to have an undefined deletion of the SERPINF1 gene.; - - China - - - - - OI - 1 1 Raymond Dalgleish
00372980 Proband 1 PubMed: Zhang 2018 The proband appears to be homozygous for the variant, but sequence analysis of the probands mother shows that she is not a carrier of the sequence variant, but has an undefined deletion of the SERPINF1 gene for which the proband is heterozygous. - - China - - - - - OI - 1 1 Raymond Dalgleish
00372981 No. 301 PubMed: Caparros-Martin 2016 - - - Egypt - - - - - OI - 1 1 Raymond Dalgleish
00372982 No. 93 PubMed: Caparros-Martin 2016 - - - Egypt - - - - - OI - 1 1 Raymond Dalgleish
00372983 OI_F5 PubMed: Shaheen 2012 - - - Saudi Arabia - - - - - OI - 1 1 Raymond Dalgleish
00372984 Patient 4 PubMed: Becker 2011 This individual was also presented as Patient 2 by {PMID25257953:Hoyer-Kuhn et al., 2014}. - - Turkey - - - - - OI - 1 1 Raymond Dalgleish
00372985 Family 1 IX-2 PubMed: Minillo 2014 - - - Brazil - - - - - OI - 1 1 Raymond Dalgleish
00372986 Family 2 III-6 PubMed: Minillo 2014 - - - Brazil - - - - - OI - 1 1 Raymond Dalgleish
00372987 - PubMed: Homan 2011 - - - Italy - - - - - OI - 1 1 Raymond Dalgleish
00372988 Patient 3 PubMed: Wang 2017 - - - China - - - - - OI - 1 1 Raymond Dalgleish
00372989 P 1 - - - - - - - - - - OI - 1 1 Ahmed Khairy Saad
00410180 Pat3 PubMed: Kuptanon 2022, Journal: Kuptanon 2022 - M no Thailand - - - - - OI6 no Dentinogenesis imperfecta (-HP:0000703), no Blue sclerae (-HP:0000592), Short stature (HP:0004322) 1 1 Thanakorn Theerapanon
00431358 Pat1 PubMed: Fernandes 2020 - ? no Brazil - >15y - - - OI Abnormal facial shape, club feet, lower leg bowing, developmental delay, generalized osteopenia, white sclerae. 1 1 Kim Worring
00435097 Pat1 PubMed: Zhalsanova 2023 - M no Russia Tuva nationality >01y - - - OI6 - 1 1 Kim Worring
00466815 Pat102 PubMed: Tuysuz 2022 - - - Turkey - - - - - OI OI3 progressively deforming osteogenesis imperfecta 1 1 Johan den Dunnen
00466816 Pat103 PubMed: Tuysuz 2022 - - - Turkey - - - - - OI OI3 progressively deforming osteogenesis imperfecta 1 1 Johan den Dunnen
00466817 Pat104 PubMed: Tuysuz 2022 - - - Turkey - - - - - OI OI3 progressively deforming osteogenesis imperfecta 1 1 Johan den Dunnen
00466818 Pat105 PubMed: Tuysuz 2022 - - - Turkey - - - - - OI OI3 progressively deforming osteogenesis imperfecta 1 1 Johan den Dunnen
00466819 Pat106 PubMed: Tuysuz 2022 - - - Turkey - - - - - OI OI3 progressively deforming osteogenesis imperfecta 1 1 Johan den Dunnen
00472149 PUMC-381 PubMed: Li 2020 patient, no family history - no China - - - - - OI1 1y-first fracture, 110 fractures; height Z -3.32; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis 2 1 Xiuli Zhao
00472150 PUMC-348 PubMed: Li 2020 patient, no family history - no China - - - - - OI1 0.67 y-first fracture, 26 fractures; height Z -0.33; no scoliosis; blue sclerae; no dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis 1 1 Xiuli Zhao
00472151 PUMC-422 PubMed: Li 2020 patient, no family history - no China - - - - - OI1 0.92 y-first fracture, 11 fractures; height Z -5.22; scoliosis; blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis 1 1 Xiuli Zhao
00472152 PUMC-496 PubMed: Li 2020 patient, no family history - no China - - - - - OI1 0.58 y-first fracture, 20 fractures; height Z -2.66; scoliosis; no blue sclerae; no dentinogenesis imperfecta; no hearing loss; able to walk; no ptosis 1 1 Xiuli Zhao
00472153 PUMC-482 PubMed: Li 2020 patient, no family history - no China - - - - - OI1 1.50 y-first fracture, 30 fractures; height Z -4.06; no scoliosis; blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; ptosis 2 1 Xiuli Zhao
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