All individuals with variants in gene PMP22

134 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000009 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00036499 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036500 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036501 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036502 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036503 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036504 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036505 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036506 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036507 - - - - - Germany - - 0 - - ? suspected HNPP, sensomotorische axonal-demyelinisierende PNP, PP of the N.peroneus, family history: positive , father affected 1 1 Andreas Laner
00036508 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036509 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036510 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036511 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00150118 - - - M - (Germany) - - 0 - - ? Hyperkinetic movements (HP:0002487); Polyneuropathy (HP:0001271); Dysphagia (HP:0002015); Orofacial dyskinesia (HP:0002310) 1 1 IMGAG
00207584 - - - F no France - 68y 0 - - CMT sensori-motor demyelinating neuropathy, severe auditory neuropathy, balance disorders 1 1 Justine Lerat
00207924 - - - M - Germany - - 0 - - - - 1 1 Andreas Laner
00210008 - - - M - Germany - - 0 - - - HP:0002460 (Distal muscle weakness); HP:0009830 (Peripheral neuropathy) 1 1 Andreas Laner
00210563 - - - F no Korea, South (Republic) Korean - 0 - - CMT CMT3, DSS 1 1 Ki Wha Chung
00210564 - - family, 1 affected M no Korea, South (Republic) Korean - 0 - - CMT CMT3, DSS 1 1 Ki Wha Chung
00210565 - PubMed: Fabrizi 1999 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210566 - PubMed: Muglia 2007 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210567 - PubMed: Taioli 2011 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210568 - PubMed: Taioli 2011 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210569 - PubMed: Nelis 1999 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210570 - PubMed: Nicholson 1994 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210571 - PubMed: Huehne 2003 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210572 - PubMed: Nodera 2003 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210573 - PubMed: Kovach 1999 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00210574 - PubMed: Roa 1993 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210575 - PubMed: Russo 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00210576 - PubMed: Boerkoel 2002 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210577 - PubMed: Nelis 1999 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210578 - PubMed: Tyson 1997 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210579 - PubMed: Luigetti 2008 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210580 - PubMed: Tyson 1997 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210581 - PubMed: Pisciotta 2009 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210582 - PubMed: Brožková 2011 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210583 - PubMed: Bort 1998 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210584 - PubMed: Roa 1993 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210585 - PubMed: Ikegami 1998 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210586 - PubMed: Tyson 1997 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210587 - PubMed: Gabreels-Festen 2002 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210588 - PubMed: Silander 1998 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210589 - PubMed: Numakura 2002 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210590 - PubMed: Ohnishi 1995 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210591 - PubMed: Ionasescu 1997 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210592 - PubMed: Young 1997 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210593 - PubMed: Moszynska 2009 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210594 - PubMed: Bort 1997 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210595 - PubMed: Marques 1998 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210596 - PubMed: Pisciotta 2009 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210597 - PubMed: Zhang 2009 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210598 - PubMed: Numakura 2002 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210599 - PubMed: Nelis 1999 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210600 - PubMed: Choi 2004 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210601 - PubMed: Marrosu 1997 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210602 - PubMed: Zubair 2008 - - - - - - 0 - - Roussy-Levy - 1 1 Johan den Dunnen
00210603 - PubMed: Abe 2004 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210604 - PubMed: Miltenberger-Miltenyi 2009 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00210605 - PubMed: Kabzinska 2010 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210606 - PubMed: Sambuughin 2003 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00210607 - PubMed: Taioli 2011 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210608 - PubMed: Roa 1993 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210609 - PubMed: Bissar-Tadmouri 2000 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210610 - PubMed: Valentijn 1995 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210611 - PubMed: Russo 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00210612 - PubMed: Takashima 2001 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210613 - PubMed: Brožková 2011 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210614 - PubMed: Zephir 2005 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210615 - PubMed: Navon 1996 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210616 - PubMed: Taioli 2011 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210617 - PubMed: Ohnishi 2000 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210618 - PubMed: Ikegami 1998 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210619 - PubMed: Ionasescu 1997 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210620 - PubMed: Numakura 2000 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210621 - PubMed: Parman 1999 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210622 - PubMed: Gess 2011 - - - - - - 0 - - neuropathy - 1 1 Johan den Dunnen
00210623 - PubMed: Valentijn 1992 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210624 - PubMed: Nelis 1999 - - - - - - 0 - - Dejerine-Sottas - 1 1 Johan den Dunnen
00210625 - PubMed: Kleopa 2004 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00210626 - PubMed: Joo 2004 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210627 - PubMed: Mersiyanova 2000 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210628 - PubMed: Takashima 2001 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00210629 - PubMed: Sahenk 1998 - - - - - - 0 - - HNPP - 1 1 Johan den Dunnen
00219025 28902413-Pat35 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT1A, CMT1E, HNPP, Dejerine-Sottas; no family history 1 1 Johan den Dunnen
00219026 28902413-Pat36 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT1A, CMT1E, HNPP, Dejerine-Sottas; no family history 1 1 Johan den Dunnen
00219027 28902413-Pat37 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT1A, CMT1E, HNPP, Dejerine-Sottas; no family history 1 1 Johan den Dunnen
00219028 28902413-Pat38 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT1A, CMT1E, HNPP, Dejerine-Sottas; no family history 1 1 Johan den Dunnen
00219029 28902413-Pat39 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT1A, CMT1E, HNPP, Dejerine-Sottas 1 1 Johan den Dunnen
00219030 28902413-Pat40 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - HNPP HNPP 1 1 Johan den Dunnen
00219031 28902413-Pat41 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - HNPP HNPP 1 1 Johan den Dunnen
00219032 28902413-Pat42 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - HNPP HNPP; no family history 1 1 Johan den Dunnen
00219033 28902413-Pat43 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT1A 1 1 Johan den Dunnen
00219034 28902413-Pat44 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT1A; no family history 1 1 Johan den Dunnen
00219035 28902413-Pat45 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT1A 1 1 Johan den Dunnen
00219036 28902413-Pat46 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT1A; no family history 1 1 Johan den Dunnen
00219037 28902413-Pat47 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT1A; no family history 1 1 Johan den Dunnen
00219038 28902413-Pat48 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT1A 1 1 Johan den Dunnen
00219039 28902413-Pat49 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT1A; no family history 1 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »