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Poland anomaly associated with ocular anomalies Hartono Hartono
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 24, No 01 (1992)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

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Abstract

A 6-year old boy suffering from Poland anomaly has been reported. The patient showed a complete picture of this malformation which consisted of aplastic greater pectoral muscle and breast on the left side of the chest, as well as oligodactily of the left hand.Other anomalies found were ocular and oral anomalies. The ocular anomalies consisted of hypertelorism, bilateral esotropias due to bilateral abducent palsy, and bilateral optic nerve hypoplasia. Oral anomalies consist of the inability to close the mouth properly and the inability to smile may be due to the defect of oral muscles.Key Words: Poland anomaly - chest anomaly - oligodactily - ocular anomalies - oral anomalies
Colour vision and the genetics of colour vision defect Hartono Hartono
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 22, No 03 (1990)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

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Abstract

Colour vision is one of the visual functions which is very important in daily life. The phenomenon of normal colour vision has been explained briefly in order to understand colour vision defects.The theory of colour vision has been proposed for a long time by Young and Helmholtz. According to this theory there are three kinds of cones in the retina, namely red, green, and blue cones. Each cone has maximum absorbance for red, green, and blue colours respectively, but their absorbance curves overlap each other.The absence of the function of red, green, and blue cones will cause red blindness (pro tanopia) , green blindness (deuteroanopia), and blue blindness (tritanopia) respectively. On the other hand, partial disturbances of red, green, and blue cones give rise to red weakness (protanomaly), green weakness (dcuteroanomaly), and blue weakness (tritoanomaly).The great majority of colour defects are hereditary or genetic diseases. Congenital red and green blindness are X-linked recessive diseases. The location of red and green colour vision genes and their alleles (genes for red and green colour vision defects) are in the end of the long arm of chromosome X. The two genes arc very close to each other. Congenital blue colour defect, on the other hand, is an autosomal recessive disease, and the location of the gene is at the end of the long arm of chromosome 7.Key Words: ophthalmology - colour vision defects - X-linked recessive diseases - autosomal recessive diseases - gene locations
Genetic syndromes associated with ocular anomalies Hartono Hartono
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 19, No 02 (1987)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

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Abstract

A syndrome is defined as the concurrence or running together of constant patterns of abnormal signs or symptoms. Syndromes can be either genetic or non-genetic in origins. Genetic diseases consist of genic diseases, chromosomic diseases and embryopathies. Genetic syndromes also consist of genic disease syndromes, chromosomic disease syndromes and embryopathic syndromes. Syndromes of genic diseases are caused by pleiotropic mutation of the genes which give rise to multiple (pleiotropic) effects. Syndromes of chromosomic diseases are caused by chromosomal derangement either by the abnormalities of their structure or their number. There are many genetic syndromes associated with ocular anomalies. Geeraets has collected 436 ocular syndromes either genetic and non-genetic in origins, and 49 of 135 recognizable human malformations collected by Smith are also associated with ocular defects. Some important chromosomic syndromes such as tkisomy 21, Patau, Edward, and cri-du-chat syndromes are also associated with ocular anomalies. Key Words: genetic diseases - pleiotropic effects - ocular anomalies - chromosomic syndromes - embryopathies
Congenital cataract: A case report of two sisters Hartono Hartono
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 18, No 04 (1986)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

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Abstract

Two sisters suffering from bilateral congenital zonular cataract have been reported-. Their parents and their one and only sister were perfectly normal. The older sister was 2 years old whereas the younger was 8 months when they were first examined and they immediately underwent discission and evacuation. It was likely that the two cases carried autosomal dominant genes for congenital zonular cataract, either non-penetrant genes or a fresh mutation of the germ cell of one of their parents. In the former the recurrence risk was 50%, whereas in the latter such risk was practically zero. Key Words: congenital zonular cataract - autosomal dominance - non-penetrant gene - fresh mutation - recurrence risk
Cacat Mental Pada Penyakit Kromoson Hartono Hartono
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 17, No 03 (1985)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

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Abstract

Genetic diseases are divided into genic diseases, chromosomic diseases and embryopa shies. There are 23 pairs of chromosomes in each human somatic cell. According to their shape and the location of their centromer, chromosomes are classified into 8 groups, namely group A, B, C, D. E. F and G. Chromosomic diseases are caused by either numerical or structural derangements of chromosomes. Chromosomic diseases cause metabolic disorders during conception until post-natal period. The degree of physical as well as mental disorders depend on the degree of lack or surplus of chromosomic materials. Chromosomic diseases may be lethal. i. e. they can cause spontaneous abortion as well as fetal and neonatal death. Some chromosomic diseases and their IQ scores will be presented here. Special attention will be given to trisomy 13, trisomy 18. trisomy 21, XXX syndrome and XYY syndrome. Key Words : mental defect - chromosomic disease - chromosome classification - IQ score - embryopathies -
Mendelisme dalam Oftalmogenetika Hartono Hartono
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 20, No 04 (1988)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

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Abstract

Mendelian disorders are genetic diseases caused by a mutant gene or a pair of mutant genes, either dominant or recessive, located in the autosomal or sex-chromosomes.The exact location of several genes in the chromosomes has been established by various rnethods. According to The Edinburgh Conference 1979 the location of 260 genes in the chromosomes has been identified.Based on the nature of the mutant genes (dominant or recessive) and the location of the mutant genes (in the autosomes or sex-chromosomes), Mendelian disorders may be transmitted by:a.autosomal dominant,b.autosomal recessive,c.X-linked dominant,d.X-linked recessive, ande. Y-linked mode of inheritance.Retinoblastoma, macular corneal dystrophies and color blindness are the examples of Mendelian disorders in ophthalmogenetics transmitted by autosomal dominant, autosomal recessive and X-linked recessive mode of inheritance respectively. In addition, a list of other Mendelian disorders affecting the eye have been presented.Key Words: Mendelian disorders - mutant genes - gene location - sex-linked mutant ophthalmogenetics
Genetic heterogeneity of retinitis pigmentosa Hartono Hartono
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 21, No 04 (1989)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

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Abstract

Genetic heterogeneity is a phenomenon in which a genetic disease can be transmitted by several modes of inheritance. The understanding of genetic heterogeneity is important in giving genetic counselling.The presence of genetic heterogeneity can be explained by the existence of:1.different mutant alleles at a single locus, and2.mutant alleles at different loci affecting the same enzyme or protein, or affecting different enzymes or proteins.To have an overall understanding of genetic heterogeneity, the heterogeneities of chronic hemolytic anemia caused by beta-globin abnormality, chronic hemolytic anemia due to thalassemias, and mucopolysaccharidoses have been chosen as examples.'The article is focused on the genetic heterogeneity of retinitis pigmentosa, a kind of retinal hereditary disease. The genetic heterogeneity of retinitis pigmentosa can be known by the facts thata.Retinitis pigmentosa can be either an isolated disease or a part of a certain syndrome.b.Retinitis pigmentosa as isolated disease can be genetic or non-genetic in nature.c. Retinitis pigmentosa as a genetic disease can be transmitted either by autosomal dominant, autosomal recessive, or X-linked recessive genes.The frequency of isolated hereditary retinitis pigmentosa varies between 30% to 50%. Clinically the dominant form is milder than the recessive form. Certain syndromes associated with retinitis pigmentosa which need to be mentioned are Usher syndrome, Laurence-Moon-Bardet-Biedl syndrome, and Kearn-Sayre syndrome.Key Words: genetic heterogeneity - retinitis pigmentosa - genetic disease - hemolytic anemia - Usher syndrome
Genetic counselling Hartono Hartono
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 15, No 02 (1983)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

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Abstract

Genetic counselling is a relatively new medical activity. There.are some conditions that usually need genetic counselling.•The classification of genetic disorders, their mode of inheritance and the method of establishing the diagnosis must be well understood before giving the counselling. The mode of inheritance of genic disorders and some difficulties in the diagnosis need special attention. Chromosomic disorders and embryopathies have been shortly explained ,as well.Finally, a short explanation of prenatal diagnosis, carrier detection and some methods of treating genetics disorders have been proposed so that genetic counselling can be given effectively.Key Words: genetic counselling - genetic disorders - genic disorders - prenatal diagnosis - carrier detection.
Peranan ekskresi amonia oleh ginjal dalam pengaturan keseimbangan asam-basa tubuh Hartono Hartono
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 9, No 02 (1977)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

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Abstract

keywords: garam amonium, kreatinin, ekskresi ammonia
APLIKASI KOORDINAT PARALEL DI DALAM RUANG DIMENSI 4 PADA DISPLAY LALU-LINTAS PESAWAT Hartono Hartono; Kus Prihantoso Krisnawan; Husna Arifah
Jurnal Sains Dasar Vol 4, No 2 (2015): October 2015
Publisher : Faculty of Mathematics and Natural Science, Universitas Negeri Yogyakarta

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.21831/jsd.v4i2.9814

Abstract

This research aims to describe ann-dimensional line on a parallel coordinate and uses the representation as a display of aircraft motion which flies at a straight line and constant velocity. A parallel coordinate of n-dimensional space depicted in the form of nparallel vertical lines which represent axis.Every two adjacent axes have the same distance. A horizontal line that cutsall axes indicates the initial pointsof each axis. In a parallel coordinate,an 15n" -dimensional point is represented as a polygonal chainwhere the vertices located on its axis. Based on the representations of some of collinear points, a line is described on a parallel coordinate. On the other hand, one can consider a graph of an aircraft motion as a graph of a 4-dimensional space. At a constant speed with a straight line orbit, the graph of an aircraft movementis a graph of 4-dimensional line. The result shows that, on a parallel coordinate, an n-dimensional line represented as 15n-1"  dots. As a consequence, the graph of an aircraft that moveat a constant speed with a straight line orbitrepresented as3 dots. By this representation, the coordinate and altitude of the aircraft can be observes at anytime. It also shows whether the movement of an aircraft disturb (strike or too close to) another plane or not. Keywords: parallel coordinate, n-dimensional space, aircraft movement display
Co-Authors Abd. Rasyid Syamsuri Abdillah Abdillah Abdillah Abdillah abdullah nur aziz Abdullah Nur Aziz Achmad Deni Tri Setya Putra Achmad Noor Fatirul Achmad Setiyo Prabowo Adeng Slamet Adi Nugroho Agus Iwan Santoso Aida Anjelina Ainun Jariah Aisah Aisah Alaya Fadllu Hadi Mukhamad Ambika Putri Perdani Aminuyati Andri Priyoherianto Andri Winata Anis Widaryanti Mahardika Anis Widaryanti Mahardika Anisa Nur Hidayah Anny Nurbasari Ari Natalia Probandari ARIF HIDAYAT Arindi Listasari Ashar Ashar atiek suprapti Aulia Windyandari Aulia Windyandari Ayu Fadhilah Baharuddin Baharuddin Bambang Tjahjono Bangun Muljosukojo Bani Nurul Adha Berlian Arswendo Adietya Bulan Kakanita Hermasari Cau Kim Jiu Cikra Ikhda Nur Hamidah Safitri Dara Nadeya Dinanty DENTA KRISTIANA Dewi Fitriya Indriani Dian Armanto Didik Ariwibowo Didik Purwadi Drs. INDARTONO M.Par M.Si Dwi Lestari Dwi Lestari Dwihandoko, Toto Heru EF Sigit Rochadi Effendi Nawawi Endah Dwi Maharsi Erna Sukestini Erni Jumiastuti Eti Poncorini Pamungkasari Evi Novita Sari Fachrudy Asj’ari Fachry Abda El Rahman Fanny Saptiani Fardzaneala Suwarto Farid, Dimas Ardika Miftah Farzand Abdullatif Fathimah Nur Hasanah Fatya Azizah Feber Antarius Ginting Febi Wahyu Lastika Sari Febi Wahyu Lastika Sari Fenny Saptiani Fiqqih Faizah Fitri Daryanti FM. Judajana Frans Judea Samosir Fransiskus Hendra Gunawan Frida Ramadian Fuad Abd Rachman Hadiyah Hadiyah Hari Setiono Hari Setyono Haris Saefurrahman Haryani, Maefa Eka Hasmiana Hasmiana Hendra Rohman Hendri Hermawan Adinugraha Heri Sudarmadji Histiarini, Aprisa Rian Husna Arifah I Made Bagus Dwiarta Idam Ragil Widianto Atmojo Ig. Aris Dwiatmoko Ignatius Gunawan Widodo Imam Baidlowi Imam Barnadib Imam Mustofa Imam Teguh Prasetyo Indah Melati Indartono Indartono Indri Erwhani Isma Putri Yanti Jamaluddin Kemal Fauzi Jati Handayani Jati Utomo Dwi H Jesi Irwanto K Anom W Kasmiah Kasmiah Kastam Syamsi Krisna Dwi Purnomo Jati Kurnia Adiati Putri Kurniawan Findiatmaja Kus Prihantoso Krisnawan Kustori Kustori Kuswadi Kuswadi Lasmita sari Latifah Aulia Harini Lely Tri Pangesti Lia Amalia Damayanti Lisa Rahmalia Hildiana Lukman Lukman Lusiana Novita WS Lutfan Lazuardi Luthfiana Lailiya M Bahril Ilmiddaviq M. Ariza Eka Yusendra M. Rizky Arif M. Syamsul Hidayat Maemunah Maemunah Maghfirotul Lathifah Mahandika Candra Kirana Malarsih Malarsih Marhadi Saputro Maria Theresia Heni Widyarti Marlita Pramuharti Masryna Siagian Matsuri Matsuri Meiyanti Widyaningrum Meliana Hardianti Melly Ariska Meri Andani Moch Abd Azis Mochammad Maksum Machfoedz Moh Nur Sholeh Mohammad Fachrurrozy Mohd Ridwan Muh irfan Muhamad Firdaus Muhammad Jazuli Muhammad Khalifah Mustami Muhammad Sehah Mukhammad Yusuf Hakim Nastiti Anggraini Ni'mah Nersiwad Nersiwad Ninik Lukiana Nurdiana Fitri Isnaini Nurmaningsih, Nurmaningsih Nyaris Pambudiyatno Paisal Halim Pangi Pangi pargaulian siagian siagian Pipit Skriptianata Putra Pranida Pradika, Jaka Pratama, Kharisma Pravesti, Cindy Asli Priska Windayani purwadi purwadi Qadriathi Dg Bau Rahmat Hidayat Rahmat Maulana Yasin Retno Ekantini Retno Winarni Rhini Fatmasari Rifdian IS Rifdian Sudjoko Rika Subarniati Riki Maulana Rini Armin ROEKMOWATI ROEKMOWATI Roy Ardiansyah Rufii Rufii Sadiman Sadiman Safriana, Eni Sahrul Iksan Salma Sukmawati Nur Aisah Sambas Sundana Sampaleng, Donna Sehah Allasimy Sehah Sehah Seno Darmanto Seno Darmanto Septian Yudha Kusuma Setiaji Setiaji Sigit Prihanto Utomo Simon Petrus Silalahi Siti Bilqis Sulaiman Siti Handayani Siti Zubaidah Slamet Hariyadi Sobron Y Lubis Sofyan Djamil Sri Anggarini Parwatiningsih Sri Marmoah St. Y. Slamet Stefanus Rumangkit Sucilia Saputri Sugi Sugito Sugito Sugito Suhanto Suhanto Sularmi Sularmi Sunarso Sugeng Sunarto Sunarto Susilawati Cicilia Laurentia Syamsiah Badruddin Tatang Talka Gani Tatas Ridho Nugroho Teguh Agustian Thoif Zara Amrullah Tina Hernawati Suryatman Toto Dwihandoko Totok Sumaryanto Totok Warsito Triana Pramadanti Trio Nur Wibowo Utin Desy Susiaty Wandra Irvandi Warso Warso Wempy Brilliansya Widia Febrianti Panjaitan Widodo J. Pudjirahardjo Winda Winarti Yadi Ardiawan Yunita Widya Rahayu Yusuf Umardani Yuyun Suprapto Zarnzani Zarnzani Zulaika Putri Rokhimah