All individuals with variants in gene M1AP

11 entries on 1 page. Showing entries 1 - 11.
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00307039 PatM330 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Germany - - 0 - - INFM follicle-stimulating hormone 9 (IU/L), luteinizing hormone 5.3 (IU/L), testosterone 14.6 (nmol/L), testicular volume right/left 17/23; azoospermia; meiotic arrest (0/0% tubules with elongating spermatids, 0/0% round spermatids, 91/99% spermatocytes, 6/1% spermatogonia, 3/0% Sertoli cell-only, 0/0% tubular shadows), testicular biopsy and sperm extraction negative 1 1 Johan den Dunnen
00307040 PatM864 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Germany - - 0 - - INFM follicle-stimulating hormone 4.7 (IU/L), luteinizing hormone 1.5 (IU/L), testosterone 9.6 (nmol/L), testicular volume right/left 19/26; azoospermia; meiotic arrest (0/0% tubules with elongating spermatids, 0/0% round spermatids, 71/91% spermatocytes, 10/4% spermatogonia, 17/1% Sertoli cell-only, 2/4% tubular shadows), testicular biopsy and sperm extraction negative 1 1 Johan den Dunnen
00307041 PatM1792 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Germany - - 0 - - INFM follicle-stimulating hormone 7.8 (IU/L), luteinizing hormone 5.1 (IU/L), testosterone 10.1 (nmol/L), testicular volume right/left 15/15; azoospermia; meiotic arrest (0/0% tubules with elongating spermatids, 0/0% round spermatids, 96/97% spermatocytes, 0/2% spermatogonia, 3/1% Sertoli cell-only, 1/0% tubular shadows), testicular biopsy and sperm extraction negative 1 1 Johan den Dunnen
00307042 PatM1943 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Croatia (Hrvatska) - - 0 - - INFM follicle-stimulating hormone 5.5 (IU/L), luteinizing hormone 3.2 (IU/L), testosterone 43.6 (nmol/L), testicular volume right/left 28/20; cryptozoospermia or azoospermiaa; 2 1 Johan den Dunnen
00307043 PatM2062 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Poland - - 0 - - INFM follicle-stimulating hormone 3.5 (IU/L), luteinizing hormone 3.6 (IU/L), testosterone 18.6 (nmol/L), testicular volume right/left 26/23; cryptozoospermia or azoospermiaa; 1 1 Johan den Dunnen
00307044 PatY126 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Portugal - - 0 - - INFM follicle-stimulating hormone 6.7 (IU/L), luteinizing hormone 3.2 (IU/L), testosterone N/A (nmol/L); azoospermia; maturation arrest at round spermatid stage, (quantification N/A), testicular biopsy and sperm extraction negative 2 1 Johan den Dunnen
00307045 PatP86 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Portugal - - 0 - - INFM follicle-stimulating hormone N/A (IU/L); azoospermia; dispersed Sertoli cells, some tubules contained only spermatogonia, testicular biopsy and sperm extraction negative 2 1 Johan den Dunnen
00307046 PatRU01691 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Netherlands - - 0 - - INFM follicle-stimulating hormone 5 (IU/L), luteinizing hormone 2.0 (IU/L), testosterone 11.3 (nmol/L); azoospermia; predominant meiotic arrest with occasional spermatids, (unilateral testicular biopsy and sperm extraction: 4% tubules with elongating spermatids, 5% round spermatids, 88% spermatocytes, 2% spermatogonia, 0% Sertoli cell-only, 0% tubular shadows), testicular biopsy and sperm extraction positive 1 1 Johan den Dunnen
00307047 PatMI-0006-P PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - United Kingdom (Great Britain) - - 0 - - INFM follicle-stimulating hormone 10.4 (IU/L),, testosterone 15.4 (nmol/L), testicular volume right/left 20/20; azoospermia; predominant meiotic arrest with occasional postmeiotic germ cells (quantification N/A), testicular biopsy and sperm extraction negative 1 1 Johan den Dunnen
00307048 PatT1024 PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - M - Turkey - - 0 - - INFM follicle-stimulating hormone 8.3 (IU/L), luteinizing hormone 4.4 (IU/L), testosterone 8.8 (nmol/L), testicular volume right/left 15/15; azoospermia; maturation arrest at round spermatid stage, (quantification N/A), testicular biopsy and sperm extraction negative 1 1 Johan den Dunnen
00307049 Fam1PatII116 PubMed: Tu 2020 2-generation family, 1 affected, unaffected heterozygous parents M yes China Han Chinese - 0 - - INFM follicle-stimulating hormone 3.65 (IU/L), luteinizing hormone 3.17 (IU/L), testosterone 18.24 (nmol/L), testicular volume right/left 12/12; severe oligozoospermia 1 1 Johan den Dunnen
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