All individuals with variants in gene MSX1

54 entries on 1 page. Showing entries 1 - 54.
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00016400 - PubMed: van den Boogaard 2000 large family, 12 affected family members ? no Netherlands Dutch - - - - STHAG1 abnormal number of permanent teeth; oral cleft 1 12 Elaine Lustosa Mendes
00016404 cases PubMed: Reddy 2013 compared 50 non-syndromic tooth agenesis patients (A) and 50 control subjects (B), the variants was shown in 46 subjects of group A and six subjects in group B - - India - - - - - STHAG1 abnormal number of permanent teeth (HP:00110440) 1 46 Elaine Lustosa Mendes
00016406 - PubMed: Jezewski 2003 - ? ? Oman - - - - - OFC5 Cleft upper lip(HP:0000204) Cleft palate (HP:0000175) 1 1 Elaine Lustosa Mendes
00016408 - PubMed: Jezewski 2003 3 cases ? ? Philippines - - - - - OFC5 unilateral cleft lip (HP:0100333)/cleft palate (HP:0100334) 1 3 Elaine Lustosa Mendes
00016409 - PubMed: Jezewski 2003 - ? ? Chile - - - - - OFC5 unilateral cleft palate (HP:0000175)/cleft upper lip(HP:0000204) 1 1 Elaine Lustosa Mendes
00016410 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? Philippines - - - - - OFC5 Cleft palate (HP:0000175) 1 1 Elaine Lustosa Mendes
00016411 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? Denmark - - - - - OFC5 cleft lip (HP:410030) 1 1 Elaine Lustosa Mendes
00016412 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? Uruguay - - - - - OFC5 bilateral cleft lip/palate (HP:0002744) 2 1 Elaine Lustosa Mendes
00016431 - PubMed: De Muynck 2004 studied 55 patients with or without orofacial cleft with or without hypodontia; 2-generation family, 3 affected father, daughter/son (F, 2M) F;M ? Belgium - - - - - STHAG1 Abnormal number of teeth (HP:0006483) 1 3 Elaine Lustosa Mendes
00016432 - PubMed: Modesto 2006 Studied 52 patients (33 with orofacial cleft; 19 orofacial cleft and tooth agenesis) and 165 controls - ? United States white - - - - - - 1 88 Elaine Lustosa Mendes
00016479 - PubMed: Liang 2012 studied four affected members of a chinese family and 88 controls. - yes China Chinese - - - - STHAG1 cleft lip, abnormal number of teeth (HP:0006483) 1 4 Elaine Lustosa Mendes
00016480 - PubMed: Kamamoto 2011 studied seven patients and 50 controls; 3-generation family, 4 affected (4F) F ? Japan Japanese - - - - STHAG1 abnormal number of teeth (HP:0006483) one or two missing permanent teeth, no orofacial cleft, no craniofacial abnormalities 1 4 Elaine Lustosa Mendes
00016481 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? United States - - - - - OFC5 Oral cleft (HP:0000202) choanal atresia (HP:0000453) anophthalmia(HP:0000528) microphthalmia (HP:0000568), congenital cataracts (HP:0000519), pachygyria(HP:0001302), Intellectual disability(HP:0001249) Dipigmentation (HP:0007483) 1 1 Elaine Lustosa Mendes
00016482 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? United States - - - - - OFC5 cleft palate (HP:0000175) 1 1 Elaine Lustosa Mendes
00016483 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? United States - - - - - OFC5 cleft palate (HP:0000175) 1 1 Elaine Lustosa Mendes
00016484 - PubMed: Modesto 2006 Studied 52 patients (33 with orofacial cleft; 19 orofacial cleft and tooth agenesis) and 165 controls. ? ? United States white - - - - - - 1 12 Elaine Lustosa Mendes
00016486 - PubMed: Jumlongras 2001 studied 3-generation family, 9 affected (4F, 5M), 11 unaffected and 132 controls F;M no United States - - - - - ECTD3 aplasia/hypoplasia nails (HP:0008386), abnormal number of teeth (HP:0006483) 11-28 congenitally missing permanent teeth (oligodontia), dysplastic toenails and/or fingernails, normal sweat glands, normal hair 1 9 Elaine Lustosa Mendes
00016487 - PubMed: Lidral 2002 studied 92 individuals (82 families) and 40 controls; large family, 16 affected - ? United States - - - - - STHAG1 tooth agenesis 1 92 Elaine Lustosa Mendes
00016491 - PubMed: Mostowska 2012 4-generation family, 5 affected (2F, 4M) and 8unaffected F;M no Poland - - - - - STHAG1 Oligodontia (HP:0000677) 1 6 Elaine Lustosa Mendes
00016510 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? United States - - - - - OFC5 bilateral cleft lip/palate (HP:0002744) 1 1 Elaine Lustosa Mendes
00016511 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? Chile - - - - - OFC5 unilateral cleft lip (HP:0100333)/cleft palate (HP:0100334) 1 1 Elaine Lustosa Mendes
00016512 - PubMed: Jezewski 2003 The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. ? ? Philippines - - - - - OFC5 unilateral cleft lip (HP:0100333)/cleft palate (HP:0100334) 1 1 Elaine Lustosa Mendes
00016518 - PubMed: Chishti 2006 studied two distantly related families (five affected members and eight unaffected) and 100 controls. - yes Pakistan - - - - - STHAG1 abnormal number of teeth (HP:0006483) 1 5 Elaine Lustosa Mendes
00016534 - PubMed: Modesto 2006 Studied 52 patients (33 with orofacial cleft; 19 orofacial cleft and tooth agenesis) and 165 controls. ? ? United States - - - - - OFC5 Oral cleft (HP:0000202) Abnormal number of teeth(HP:0006483) 1 52 Elaine Lustosa Mendes
00016551 - PubMed: Mostowska 2006 Studied a family with one affected person and four unaffected and 180 controls. M no Poland - - - - - STHAG1 Abnormal number of teeth(HP:0006483) 1 1 Elaine Lustosa Mendes
00228781 - - - - - - - - - - - STHAG1 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00228897 - PubMed: Modesto 2006 Studied 52 patients (33 with orofacial cleft; 19 orofacial cleft and tooth agenesis) and 165 controls - - United States white - - - - - - 1 8 Elaine Lustosa Mendes
00228898 controls PubMed: Reddy 2013 compared 50 non-syndromic tooth agenesis patients (A) and 50 control subjects (B), the variants was shown in 46 subjects of group A and six subjects in group B - - India - - - - - Healthy/Control - 1 6 Elaine Lustosa Mendes
00228900 - PubMed: Vastardis 1996 multi-generation family - - United States - - - - - STHAG1 agenesis second premolars and third molars 1 1 Johan den Dunnen
00229446 - PubMed: Jezewski 2003 - - - Viet Nam - - - - - OFC5 cleft lip (HP:410030) 1 1 Johan den Dunnen
00229447 - PubMed: Jezewski 2003 - - - Japan - - - - - OFC5 unilateral cleft lip (HP:0100333)/cleft palate (HP:0100334) 1 1 Johan den Dunnen
00229448 - PubMed: Jezewski 2003 - - - Philippines - - - - - OFC5 bilateral cleft lip/palate (HP:0002744) 1 1 Johan den Dunnen
00229449 - PubMed: Jezewski 2003 - - - Philippines - - - - - OFC5 cleft lip (HP:410030) 1 1 Johan den Dunnen
00229541 Fam1 PubMed: Suzuki 2004 3 families /175 studied; 3-generation family, 3 affected (3M) F;M - Viet Nam - - - - - OFC5 - 1 3 Johan den Dunnen
00229542 controls PubMed: Tongkobpetch 2006 - - - Thailand - - - - - Healthy/Control - 1 8 Johan den Dunnen
00229543 - PubMed: Tongkobpetch 2006 studies 100 patients with nonsyndromic CL/P - - Thailand - - - - - ? cleft lip, cleft palate 1 1 Johan den Dunnen
00229544 - PubMed: Tongkobpetch 2006 studies 100 patients with nonsyndromic CL/P - - Thailand - - - - - ? cleft lip, cleft palate 1 1 Johan den Dunnen
00229545 - PubMed: Tongkobpetch 2006 studies 100 patients with nonsyndromic CL/P - - Thailand - - - - - ? cleft lip, cleft palate 1 1 Johan den Dunnen
00229546 - PubMed: Vieira 2005 studies 1468 cleft cases - - Philippines - - - - - OFC5 - 1 1 Johan den Dunnen
00229547 Fam PubMed: Vieira 2005 studies 1468 cleft cases; 5-generation family, 4 affected (F, 3M, two non-carriers), unaffected carrier relatives - - Philippines - - - - - OFC5 - 1 1 Johan den Dunnen
00229548 family PubMed: Kim 2006 3-generation family, affected father/son/daughter F;M - United States - - - - - STHAG1 oligodontia 1 3 Johan den Dunnen
00229549 Fam2 PubMed: Suzuki 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - OFC5 see paper; ... 2 1 Johan den Dunnen
00229550 Fam3 PubMed: Suzuki 2004 2-generation family, 1 affected, unaffected heterozygous carrier mother F - Japan - - - - - OFC5 cleft palet 1 1 Johan den Dunnen
00229551 - PubMed: Vieira 2004 studied 45 patients - - Chile - - - - - OFC5 orofacial cleft 1 1 Johan den Dunnen
00229552 - PubMed: Vieira 2004 studied 45 patients - - Chile - - - - - OFC5 orofacial cleft 1 1 Johan den Dunnen
00229553 family PubMed: Xuan 2008 3-generation family, 5 affected (F, 4M) F;M - China - - - - - STHAG1 oligodontia 2 5 Johan den Dunnen
00229554 - PubMed: Li 2008 family, 7 affected - - China - - - - - STHAG1 oligodontia 1 7 Johan den Dunnen
00229555 patient PubMed: Bergendal 2011 - F - Sweden - - - - - STHAG1 see paper; ..., oligodontia (18 missing teeth) 1 1 Johan den Dunnen
00229556 patient PubMed: Bergendal 2011 - M - Sweden - - - - - STHAG1 see paper; ..., oligodontia (7 missing teeth) 1 1 Johan den Dunnen
00229557 patient 1 PubMed: Pawlowska 2009 - M - Poland - - - - - STHAG1 see paper; ..., oligodontia 2 1 Johan den Dunnen
00229558 patient 2 PubMed: Pawlowska 2009 - F - Poland - - - - - STHAG1 see paper; ..., oligodontia 2 1 Johan den Dunnen
00293622 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00326089 - - - - - - - - - - - STHAG1 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00385908 V2.91 PubMed: Prasad 2016 - F - - - - - - - STHAG isolated selective tooth agenesis 1 1 Johan den Dunnen
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